KIF21A: Difference between revisions

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Revision as of 06:59, 4 December 2017

Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.^[1]^[2]

KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM]^[2]

References

↑ Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS (Jun 1999). "Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B". J Cell Biol. 145 (3): 469–479. doi:10.1083/jcb.145.3.469. PMC 2185086. PMID 10225949.
↑ ^2.0 ^2.1 "Entrez Gene: KIF21A kinesin family member 21A".

Yamada K, Hunter DG, Andrews C, Engle EC (2005). "A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon". Arch. Ophthalmol. 123 (9): 1254–1259. doi:10.1001/archopht.123.9.1254. PMID 16157808.
Engle EC, Kunkel LM, Specht LA, Beggs AH (1994). "Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12". Nat. Genet. 7 (1): 69–73. doi:10.1038/ng0594-69. PMID 8075644.
Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–176. doi:10.1093/dnares/5.3.169. PMID 9734811.
Scanlan MJ, Gordan JD, Williamson B, et al. (1999). "Antigens recognized by autologous antibody in patients with renal-cell carcinoma". Int. J. Cancer. 83 (4): 456–464. doi:10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5. PMID 10508479. replacement character in |last8= at position 2 (help); replacement character in |last9= at position 2 (help)
Nagase T, Kikuno R, Hattori A, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–355. doi:10.1093/dnares/7.6.347. PMID 11214970.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Magli A, de Berardinis T, D'Esposito F, Gagliardi V (2004). "Clinical and surgical data of affected members of a classic CFEOM I family". BMC Ophthalmology. 3: 6. PMC 155649. PMID 12702216.
Yamada K, Andrews C, Chan WM, et al. (2004). "Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)". Nat. Genet. 35 (4): 318–321. doi:10.1038/ng1261. PMID 14595441.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Yamada K, Chan WM, Andrews C, et al. (2004). "Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)". Invest. Ophthalmol. Vis. Sci. 45 (7): 2218–2223. doi:10.1167/iovs.03-1413. PMID 15223798.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Tiab L, d'Allèves Manzi V, Borruat FX, et al. (2005). "Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients". Ophthalmic Genet. 25 (4): 241–246. doi:10.1080/13816810490902828. PMID 15621876.
Ali M, Venkatesh C, Ragunath A, Kumar A (2005). "Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations". Ophthalmic Genet. 25 (4): 247–255. doi:10.1080/13816810490498198. PMID 15621877.
Demer JL, Clark RA, Engle EC (2005). "Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A". Invest. Ophthalmol. Vis. Sci. 46 (2): 530–539. doi:10.1167/iovs.04-1125. PMID 15671279.
Lin LK, Chien YH, Wu JY, et al. (2006). "KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3". Mol. Vis. 11: 245–8. PMID 15827546.
Shimizu S, Okinaga A, Maruo T (2006). "Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles". Jpn. J. Ophthalmol. 49 (6): 443–447. doi:10.1007/s10384-005-0243-7. PMID 16365788.
Chan WM, Andrews C, Dragan L, et al. (2007). "Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1". BMC Genet. 8: 26. doi:10.1186/1471-2156-8-26. PMC 1888713. PMID 17511870.

External links

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[pmid10225949-1] Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS (Jun 1999). "Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B". J Cell Biol. 145 (3): 469–479. doi:10.1083/jcb.145.3.469. PMC 2185086. PMID 10225949.

[entrez-2] 2.0 ^2.1 "Entrez Gene: KIF21A kinesin family member 21A".

[1]

[2]

@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Underlinked|date=November 2017}}
-{{PBB_Controls
+{{Infobox_gene}}
-| update_page = yes
+'''Kinesin-like protein KIF21A''' is a [[protein]] that in humans is encoded by the ''KIF21A'' [[gene]].<ref name="pmid10225949">{{cite journal |vauthors=Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS | title = Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B | journal = J Cell Biol | volume = 145 | issue = 3 | pages = 469–479 |date=Jun 1999 | pmid = 10225949 | pmc = 2185086 | doi =10.1083/jcb.145.3.469  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: KIF21A kinesin family member 21A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55605| accessdate = }}</ref>
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Kinesin family member 21A
- | HGNCid = 19349
- | Symbol = KIF21A
- | AltSymbols =; CFEOM; CFEOM1; DKFZp779C159; FEOM; FEOM1; FLJ20052; KIAA1708
- | OMIM = 608283
- | ECnumber =
- | Homologene = 56761
- | MGIid = 109188
- | GeneAtlas_image1 = PBB_GE_KIF21A_gnf1h05980_at_tn.png
- | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003777 |text = microtubule motor activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}}
- | Component = {{GNF_GO|id=GO:0005874 |text = microtubule}} {{GNF_GO|id=GO:0005875 |text = microtubule associated complex}}
-  | Process = {{GNF_GO|id=GO:0007018 |text = microtubule-based movement}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 55605
-    | Hs_Ensembl = ENSG00000139116
-    | Hs_RefseqProtein = NP_060111
-    | Hs_RefseqmRNA = NM_017641
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 12
-    | Hs_GenLoc_start = 37973298
-    | Hs_GenLoc_end = 38123185
-    | Hs_Uniprot = Q7Z4S6
-    | Mm_EntrezGene = 16564
-    | Mm_Ensembl = ENSMUSG00000022629
-    | Mm_RefseqmRNA = NM_016705
-    | Mm_RefseqProtein = NP_057914
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 15
-    | Mm_GenLoc_start = 90762217
-    | Mm_GenLoc_end = 90825824
-    | Mm_Uniprot = Q8BXG5
-  }}
-}}
-'''Kinesin family member 21A''', also known as '''KIF21A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KIF21A kinesin family member 21A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55605| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: KIF21A kinesin family member 21A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55605| accessdate = }}</ref>
+| summary_text = KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM]<ref name="entrez" />
 }}
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Yamada K, Hunter DG, Andrews C, Engle EC |title=A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. |journal=Arch. Ophthalmol. |volume=123 |issue= 9 |pages= 1254-9 |year= 2005 |pmid= 16157808 |doi= 10.1001/archopht.123.9.1254 }}
+*{{cite journal  |vauthors=Yamada K, Hunter DG, Andrews C, Engle EC |title=A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon |journal=Arch. Ophthalmol. |volume=123 |issue= 9 |pages= 1254–1259 |year= 2005 |pmid= 16157808 |doi= 10.1001/archopht.123.9.1254 }}
-*{{cite journal  | author=Engle EC, Kunkel LM, Specht LA, Beggs AH |title=Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. |journal=Nat. Genet. |volume=7 |issue= 1 |pages= 69-73 |year= 1994 |pmid= 8075644 |doi= 10.1038/ng0594-69 }}
+*{{cite journal  |vauthors=Engle EC, Kunkel LM, Specht LA, Beggs AH |title=Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12 |journal=Nat. Genet. |volume=7 |issue= 1 |pages= 69–73 |year= 1994 |pmid= 8075644 |doi= 10.1038/ng0594-69 }}
-*{{cite journal  | author=Ishikawa K, Nagase T, Suyama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169-76 |year= 1998 |pmid= 9734811 |doi=  }}
+*{{cite journal  | author=Ishikawa K |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–176 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169  |name-list-format=vanc| author2=Nagase T  | author3=Suyama M  | display-authors=3  | last4=Miyajima  | first4=N  | last5=Tanaka  | first5=A  | last6=Kotani  | first6=H  | last7=Nomura  | first7=N  | last8=Ohara  | first8=O  }}
-*{{cite journal  | author=Marszalek JR, Weiner JA, Farlow SJ, ''et al.'' |title=Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B. |journal=J. Cell Biol. |volume=145 |issue= 3 |pages= 469-79 |year= 1999 |pmid= 10225949 |doi=  }}
+*{{cite journal  | author=Scanlan MJ |title=Antigens recognized by autologous antibody in patients with renal-cell carcinoma |journal=Int. J. Cancer |volume=83 |issue= 4 |pages= 456–464 |year= 1999 |pmid= 10508479 |doi=10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5  |name-list-format=vanc| author2=Gordan JD  | author3=Williamson B  | display-authors=3  | last4=Stockert  | first4=Elisabeth  | last5=Bander  | first5=Neil H.  | last6=Jongeneel  | first6=Victor  | last7=Gure  | first7=Ali O.  | last8=j�Ger  | first8=Dirk  | last9=j�Ger  | first9=Elke  }}
-*{{cite journal  | author=Scanlan MJ, Gordan JD, Williamson B, ''et al.'' |title=Antigens recognized by autologous antibody in patients with renal-cell carcinoma. |journal=Int. J. Cancer |volume=83 |issue= 4 |pages= 456-64 |year= 1999 |pmid= 10508479 |doi=  }}
+*{{cite journal  | author=Nagase T |title=Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro |journal=DNA Res. |volume=7 |issue= 6 |pages= 347–355 |year= 2001 |pmid= 11214970 |doi=10.1093/dnares/7.6.347  |name-list-format=vanc| author2=Kikuno R  | author3=Hattori A  | display-authors=3  | last4=Kondo  | first4=Y  | last5=Okumura  | first5=K  | last6=Ohara  | first6=O  }}
-*{{cite journal  | author=Nagase T, Kikuno R, Hattori A, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 6 |pages= 347-55 |year= 2001 |pmid= 11214970 |doi=  }}
+*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  |vauthors=Magli A, de Berardinis T, D'Esposito F, Gagliardi V |title=Clinical and surgical data of affected members of a classic CFEOM I family |journal=BMC Ophthalmology |volume=3|pages= 6 |year= 2004 |pmid= 12702216 |doi=  | pmc=155649  }}
-*{{cite journal  | author=Magli A, de Berardinis T, D'Esposito F, Gagliardi V |title=Clinical and surgical data of affected members of a classic CFEOM I family. |journal=BMC ophthalmology |volume=3 |issue=  |pages= 6 |year= 2004 |pmid= 12702216 |doi=  }}
+*{{cite journal  | author=Yamada K |title=Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) |journal=Nat. Genet. |volume=35 |issue= 4 |pages= 318–321 |year= 2004 |pmid= 14595441 |doi= 10.1038/ng1261  |name-list-format=vanc| author2=Andrews C  | author3=Chan WM  | display-authors=3  | last4=McKeown  | first4=Craig A  | last5=Magli  | first5=Adriano  | last6=De Berardinis  | first6=Teresa  | last7=Loewenstein  | first7=Anat  | last8=Lazar  | first8=Moshe  | last9=O'Keefe  | first9=Michael }}
-*{{cite journal  | author=Yamada K, Andrews C, Chan WM, ''et al.'' |title=Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). |journal=Nat. Genet. |volume=35 |issue= 4 |pages= 318-21 |year= 2004 |pmid= 14595441 |doi= 10.1038/ng1261 }}
+*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | author=Yamada K |title=Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3) |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 7 |pages= 2218–2223 |year= 2004 |pmid= 15223798 |doi=10.1167/iovs.03-1413  |name-list-format=vanc| author2=Chan WM  | author3=Andrews C  | display-authors=3  | last4=Bosley  | first4=TM  | last5=Sener  | first5=EC  | last6=Zwaan  | first6=JT  | last7=Mullaney  | first7=PB  | last8=Oztürk  | first8=BT  | last9=Akarsu  | first9=AN  }}
-*{{cite journal  | author=Yamada K, Chan WM, Andrews C, ''et al.'' |title=Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 7 |pages= 2218-23 |year= 2004 |pmid= 15223798 |doi=  }}
+*{{cite journal  | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–2127 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
+*{{cite journal  | author=Tiab L |title=Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 241–246 |year= 2005 |pmid= 15621876 |doi= 10.1080/13816810490902828  |name-list-format=vanc| author2=d'Allèves Manzi V  | author3=Borruat FX  | display-authors=3  | last4=Munier  | first4=Francis  | last5=Schorderet  | first5=Daniel }}
-*{{cite journal  | author=Tiab L, d'Allèves Manzi V, Borruat FX, ''et al.'' |title=Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 241-6 |year= 2005 |pmid= 15621876 |doi= 10.1080/13816810490902828 }}
+*{{cite journal  |vauthors=Ali M, Venkatesh C, Ragunath A, Kumar A |title=Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 247–255 |year= 2005 |pmid= 15621877 |doi= 10.1080/13816810490498198 }}
-*{{cite journal  | author=Ali M, Venkatesh C, Ragunath A, Kumar A |title=Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 247-55 |year= 2005 |pmid= 15621877 |doi= 10.1080/13816810490498198 }}
+*{{cite journal  |vauthors=Demer JL, Clark RA, Engle EC |title=Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 2 |pages= 530–539 |year= 2005 |pmid= 15671279 |doi= 10.1167/iovs.04-1125 }}
-*{{cite journal  | author=Demer JL, Clark RA, Engle EC |title=Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 2 |pages= 530-9 |year= 2005 |pmid= 15671279 |doi= 10.1167/iovs.04-1125 }}
+*{{cite journal  | author=Lin LK |title=KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 |journal=Mol. Vis. |volume=11 |issue=  |pages= 245–8 |year= 2006 |pmid= 15827546 |doi=  |name-list-format=vanc| author2=Chien YH  | author3=Wu JY  | display-authors=3  | last4=Wang  | first4=AH  | last5=Chiang  | first5=SC  | last6=Hwu  | first6=WL  }}
-*{{cite journal  | author=Lin LK, Chien YH, Wu JY, ''et al.'' |title=KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. |journal=Mol. Vis. |volume=11 |issue=  |pages= 245-8 |year= 2006 |pmid= 15827546 |doi=  }}
+*{{cite journal  |vauthors=Shimizu S, Okinaga A, Maruo T |title=Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles |journal=Jpn. J. Ophthalmol. |volume=49 |issue= 6 |pages= 443–447 |year= 2006 |pmid= 16365788 |doi= 10.1007/s10384-005-0243-7 }}
-*{{cite journal  | author=Shimizu S, Okinaga A, Maruo T |title=Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. |journal=Jpn. J. Ophthalmol. |volume=49 |issue= 6 |pages= 443-7 |year= 2006 |pmid= 16365788 |doi= 10.1007/s10384-005-0243-7 }}
+*{{cite journal  | author=Chan WM |title=Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 |journal=BMC Genet. |volume=8|pages= 26 |year= 2007 |pmid= 17511870 |doi= 10.1186/1471-2156-8-26  | pmc=1888713  |name-list-format=vanc| author2=Andrews C  | author3=Dragan L  | display-authors=3  | last4=Fredrick  | first4=Douglas  | last5=Armstrong  | first5=Linlea  | last6=Lyons  | first6=Christopher  | last7=Geraghty  | first7=Michael T  | last8=Hunter  | first8=David G  | last9=Yazdani  | first9=Ahmad }}
-*{{cite journal  | author=Chan WM, Andrews C, Dragan L, ''et al.'' |title=Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. |journal=BMC Genet. |volume=8 |issue=  |pages= 26 |year= 2007 |pmid= 17511870 |doi= 10.1186/1471-2156-8-26 }}
 }}
 {{refend}}
-{{protein-stub}}
+== External links ==
-{{WikiDoc Sources}}
+* [https://web.archive.org/web/20100306000036/http://www.childrenshospital.org/cfapps/research/data_admin/Site339/mainpageS339P18sublevel13.html Engle Laboratory CFEOM page]
+*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cfeom  GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles]
+* [https://www.ncbi.nlm.nih.gov/omim/135700,600638,602078,602661,602753,608283,609384,609428  OMIM entries on Congenital Fibrosis of the Extraocular Muscles]
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+{{PBB_Controls
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+{{gene-12-stub}}

KIF21A: Difference between revisions

Revision as of 06:59, 4 December 2017

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