PDZK1: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Na(+)/H(+) exchange regulatory cofactor NHE-RF3''' is a [[protein]] that in humans is encoded by the ''PDZK1'' [[gene]].<ref name="pmid9461128">{{cite journal | vauthors = Kocher O, Comella N, Tognazzi K, Brown LF | title = Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains | journal = Lab Invest | volume = 78 | issue = 1 | pages = 117–25 | date = March 1998 | pmid = 9461128 | pmc = | doi = }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PDZK1 PDZ domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5174| accessdate = }}</ref>
| update_page = yes
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| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Interactions ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = PDZ domain containing 1
| HGNCid = 8821
| Symbol = PDZK1
| AltSymbols =; CAP70; CLAMP; PDZD1
| OMIM = 603831
| ECnumber = 
| Homologene = 1964
| MGIid = 1928901
| Function = {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008022 |text = protein C-terminus binding}} {{GNF_GO|id=GO:0030165 |text = PDZ domain binding}}
| Component =
| Process = {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0015893 |text = drug transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5174
    | Hs_Ensembl = 
    | Hs_RefseqProtein = XP_001126677
    | Hs_RefseqmRNA = XM_001126677
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 59020
    | Mm_Ensembl = ENSMUSG00000038298
    | Mm_RefseqmRNA = NM_021517
    | Mm_RefseqProtein = NP_067492
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 96935635
    | Mm_GenLoc_end = 96955568
    | Mm_Uniprot = Q9JIL4
  }}
}}
'''PDZ domain containing 1''', also known as '''PDZK1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PDZK1 PDZ domain containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5174| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
PDZK1 has been shown to [[Protein-protein interaction|interact]] with:
{{PBB_Summary
* [[AKAP10]],<ref name = pmid14531806>{{cite journal | vauthors = Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H | title = PDZK1: I. a major scaffolder in brush borders of proximal tubular cells | journal = Kidney Int. | volume = 64 | issue = 5 | pages = 1733–45 | date = November 2003 | pmid = 14531806 | doi = 10.1046/j.1523-1755.2003.00266.x }}</ref>
| section_title =  
* [[CLCN3]],<ref name = pmid12471024>{{cite journal | vauthors = Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR | title = The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins | journal = J. Biol. Chem. | volume = 278 | issue = 8 | pages = 6440–9 | date = February 2003 | pmid = 12471024 | doi = 10.1074/jbc.M211050200 }}</ref>
| summary_text =  
* [[Cystic fibrosis transmembrane conductance regulator]]<ref name = pmid12471024/><ref name = pmid11051556>{{cite journal | vauthors = Wang S, Yue H, Derin RB, Guggino WB, Li M | title = Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity | journal = Cell | volume = 103 | issue = 1 | pages = 169–79 | date = September 2000 | pmid = 11051556 | doi = 10.1016/s0092-8674(00)00096-9}}</ref>
}}
* [[FARP2]],<ref name = pmid14531806/>  
* [[PDZK1IP1]],<ref name = pmid14531806/><ref name = pmid12837682>{{cite journal | vauthors = Pribanic S, Gisler SM, Bacic D, Madjdpour C, Hernando N, Sorribas V, Gantenbein A, Biber J, Murer H | title = Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells | journal = Am. J. Physiol. Renal Physiol. | volume = 285 | issue = 4 | pages = F784-91 | date = October 2003 | pmid = 12837682 | doi = 10.1152/ajprenal.00109.2003 }}</ref><ref name = pmid12754212>{{cite journal | vauthors = Silver DL, Wang N, Vogel S | title = Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels | journal = J. Biol. Chem. | volume = 278 | issue = 31 | pages = 28528–32 | date = August 2003 | pmid = 12754212 | doi = 10.1074/jbc.M304109200 }}</ref>
* [[SLC22A12]],<ref name = pmid14531806/>
* [[SLC22A4]],<ref name = pmid14531806/>
* [[SLC34A3]],<ref name = pmid14531806/>
* [[SLK (gene)|SLK]],<ref name = pmid14531806/>  and
* [[Sodium-hydrogen antiporter 3 regulator 1]].<ref name = pmid14531806/>


==References==
==Related gene problems==
{{reflist|2}}
*[[TAR syndrome]]<ref name="pmid17236129">{{cite journal | vauthors = Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S | title = Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome | journal = Am. J. Hum. Genet. | volume = 80 | issue = 2 | pages = 232–40 | date = February 2007 | pmid = 17236129 | pmc = 1785342 | doi = 10.1086/510919 | url =  | issn =  }}</ref>
==Further reading==
*[[1q21.1 deletion syndrome]]
*[[1q21.1 duplication syndrome]]
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = White KE, Biber J, Murer H, Econs MJ | title = A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21 | journal = Ann. Hum. Genet. | volume = 62 | issue = Pt 4 | pages = 287–90 | year = 1999 | pmid = 9924606 | doi = 10.1046/j.1469-1809.1998.6240287.x }}
| citations =
* {{cite journal | vauthors = Kocher O, Comella N, Gilchrist A, Pal R, Tognazzi K, Brown LF, Knoll JH | title = PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein | journal = Lab. Invest. | volume = 79 | issue = 9 | pages = 1161–70 | year = 1999 | pmid = 10496535 | doi = }}
*{{cite journal | author=Kocher O, Comella N, Tognazzi K, Brown LF |title=Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains. |journal=Lab. Invest. |volume=78 |issue= 1 |pages= 117-25 |year= 1998 |pmid= 9461128 |doi= }}
* {{cite journal | vauthors = Ikemoto M, Arai H, Feng D, Tanaka K, Aoki J, Dohmae N, Takio K, Adachi H, Tsujimoto M, Inoue K | title = Identification of a PDZ-domain-containing protein that interacts with the scavenger receptor class B type I | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 97 | issue = 12 | pages = 6538–43 | year = 2000 | pmid = 10829064 | pmc = 18651 | doi = 10.1073/pnas.100114397 }}
*{{cite journal | author=White KE, Biber J, Murer H, Econs MJ |title=A PDZ domain-containing protein with homology to Diphor-1 maps to human chromosome 1q21. |journal=Ann. Hum. Genet. |volume=62 |issue= Pt 4 |pages= 287-90 |year= 1999 |pmid= 9924606 |doi= 10.1046/j.1469-1809.1998.6240287.x }}
* {{cite journal | vauthors = Wang S, Yue H, Derin RB, Guggino WB, Li M | title = Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity | journal = Cell | volume = 103 | issue = 1 | pages = 169–79 | year = 2000 | pmid = 11051556 | doi = 10.1016/S0092-8674(00)00096-9 }}
*{{cite journal | author=Kocher O, Comella N, Gilchrist A, ''et al.'' |title=PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein. |journal=Lab. Invest. |volume=79 |issue= 9 |pages= 1161-70 |year= 1999 |pmid= 10496535 |doi= }}
* {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA Cloning Using In Vitro Site-Specific Recombination | journal = Genome Res. | volume = 10 | issue = 11 | pages = 1788–95 | year = 2001 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
*{{cite journal | author=Ikemoto M, Arai H, Feng D, ''et al.'' |title=Identification of a PDZ-domain-containing protein that interacts with the scavenger receptor class B type I. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 12 |pages= 6538-43 |year= 2000 |pmid= 10829064 |doi= 10.1073/pnas.100114397 }}
* {{cite journal | vauthors = Gisler SM, Stagljar I, Traebert M, Bacic D, Biber J, Murer H | title = Interaction of the type IIa Na/Pi cotransporter with PDZ proteins | journal = J. Biol. Chem. | volume = 276 | issue = 12 | pages = 9206–13 | year = 2001 | pmid = 11099500 | doi = 10.1074/jbc.M008745200 }}
*{{cite journal | author=Wang S, Yue H, Derin RB, ''et al.'' |title=Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity. |journal=Cell |volume=103 |issue= 1 |pages= 169-79 |year= 2000 |pmid= 11051556 |doi= }}
* {{cite journal | vauthors = Silver DL | title = A carboxyl-terminal PDZ-interacting domain of scavenger receptor B, type I is essential for cell surface expression in liver | journal = J. Biol. Chem. | volume = 277 | issue = 37 | pages = 34042–7 | year = 2002 | pmid = 12119305 | doi = 10.1074/jbc.M206584200 }}
*{{cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi= }}
* {{cite journal | vauthors = Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G | title = NEPH1 defines a novel family of podocin interacting proteins | journal = FASEB J. | volume = 17 | issue = 1 | pages = 115–7 | year = 2003 | pmid = 12424224 | doi = 10.1096/fj.02-0242fje }}
*{{cite journal | author=Gisler SM, Stagljar I, Traebert M, ''et al.'' |title=Interaction of the type IIa Na/Pi cotransporter with PDZ proteins. |journal=J. Biol. Chem. |volume=276 |issue= 12 |pages= 9206-13 |year= 2001 |pmid= 11099500 |doi= 10.1074/jbc.M008745200 }}
* {{cite journal | vauthors = Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR | title = The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins | journal = J. Biol. Chem. | volume = 278 | issue = 8 | pages = 6440–9 | year = 2003 | pmid = 12471024 | doi = 10.1074/jbc.M211050200 }}
*{{cite journal | author=Silver DL |title=A carboxyl-terminal PDZ-interacting domain of scavenger receptor B, type I is essential for cell surface expression in liver. |journal=J. Biol. Chem. |volume=277 |issue= 37 |pages= 34042-7 |year= 2002 |pmid= 12119305 |doi= 10.1074/jbc.M206584200 }}
* {{cite journal | vauthors = Hegedüs T, Sessler T, Scott R, Thelin W, Bakos E, Váradi A, Szabó K, Homolya L, Milgram SL, Sarkadi B | title = C-terminal phosphorylation of MRP2 modulates its interaction with PDZ proteins | journal = Biochem. Biophys. Res. Commun. | volume = 302 | issue = 3 | pages = 454–61 | year = 2003 | pmid = 12615054 | doi = 10.1016/S0006-291X(03)00196-7 }}
*{{cite journal | author=Sellin L, Huber TB, Gerke P, ''et al.'' |title=NEPH1 defines a novel family of podocin interacting proteins. |journal=FASEB J. |volume=17 |issue= 1 |pages= 115-7 |year= 2003 |pmid= 12424224 |doi= 10.1096/fj.02-0242fje }}
* {{cite journal | vauthors = Silver DL, Wang N, Vogel S | title = Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels | journal = J. Biol. Chem. | volume = 278 | issue = 31 | pages = 28528–32 | year = 2003 | pmid = 12754212 | doi = 10.1074/jbc.M304109200 }}
*{{cite journal | author=Gentzsch M, Cui L, Mengos A, ''et al.'' |title=The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins. |journal=J. Biol. Chem. |volume=278 |issue= 8 |pages= 6440-9 |year= 2003 |pmid= 12471024 |doi= 10.1074/jbc.M211050200 }}
* {{cite journal | vauthors = Pribanic S, Gisler SM, Bacic D, Madjdpour C, Hernando N, Sorribas V, Gantenbein A, Biber J, Murer H | title = Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells | journal = Am. J. Physiol. Renal Physiol. | volume = 285 | issue = 4 | pages = F784–91 | year = 2003 | pmid = 12837682 | doi = 10.1152/ajprenal.00109.2003 }}
*{{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 = Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H | title = PDZK1: I. a major scaffolder in brush borders of proximal tubular cells | journal = Kidney Int. | volume = 64 | issue = 5 | pages = 1733–45 | year = 2004 | pmid = 14531806 | doi = 10.1046/j.1523-1755.2003.00266.x }}
*{{cite journal | author=Hegedüs T, Sessler T, Scott R, ''et al.'' |title=C-terminal phosphorylation of MRP2 modulates its interaction with PDZ proteins. |journal=Biochem. Biophys. Res. Commun. |volume=302 |issue= 3 |pages= 454-61 |year= 2003 |pmid= 12615054 |doi= }}
* {{cite journal | vauthors = Kocher O, Yesilaltay A, Cirovic C, Pal R, Rigotti A, Krieger M | title = Targeted disruption of the PDZK1 gene in mice causes tissue-specific depletion of the high density lipoprotein receptor scavenger receptor class B type I and altered lipoprotein metabolism | journal = J. Biol. Chem. | volume = 278 | issue = 52 | pages = 52820–5 | year = 2004 | pmid = 14551195 | doi = 10.1074/jbc.M310482200 }}
*{{cite journal | author=Silver DL, Wang N, Vogel S |title=Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels. |journal=J. Biol. Chem. |volume=278 |issue= 31 |pages= 28528-32 |year= 2003 |pmid= 12754212 |doi= 10.1074/jbc.M304109200 }}
* {{cite journal | vauthors = Inoue J, Otsuki T, Hirasawa A, Imoto I, Matsuo Y, Shimizu S, Taniwaki M, Inazawa J | title = Overexpression of PDZK1 within the 1q12-q22 Amplicon Is Likely To Be Associated with Drug-Resistance Phenotype in Multiple Myeloma | journal = Am. J. Pathol. | volume = 165 | issue = 1 | pages = 71–81 | year = 2004 | pmid = 15215163 | pmc = 1618545 | doi = 10.1016/S0002-9440(10)63276-2 }}
*{{cite journal | author=Pribanic S, Gisler SM, Bacic D, ''et al.'' |title=Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells. |journal=Am. J. Physiol. Renal Physiol. |volume=285 |issue= 4 |pages= F784-91 |year= 2003 |pmid= 12837682 |doi= 10.1152/ajprenal.00109.2003 }}
* {{cite journal | vauthors = Anzai N, Miyazaki H, Noshiro R, Khamdang S, Chairoungdua A, Shin HJ, Enomoto A, Sakamoto S, Hirata T, Tomita K, Kanai Y, Endou H | title = The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus | journal = J. Biol. Chem. | volume = 279 | issue = 44 | pages = 45942–50 | year = 2004 | pmid = 15304510 | doi = 10.1074/jbc.M406724200 }}
*{{cite journal | author=Gisler SM, Pribanic S, Bacic D, ''et al.'' |title=PDZK1: I. a major scaffolder in brush borders of proximal tubular cells. |journal=Kidney Int. |volume=64 |issue= 5 |pages= 1733-45 |year= 2004 |pmid= 14531806 |doi= 10.1046/j.1523-1755.2003.00266.x }}
*{{cite journal | author=Kocher O, Yesilaltay A, Cirovic C, ''et al.'' |title=Targeted disruption of the PDZK1 gene in mice causes tissue-specific depletion of the high density lipoprotein receptor scavenger receptor class B type I and altered lipoprotein metabolism. |journal=J. Biol. Chem. |volume=278 |issue= 52 |pages= 52820-5 |year= 2004 |pmid= 14551195 |doi= 10.1074/jbc.M310482200 }}
*{{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=Inoue J, Otsuki T, Hirasawa A, ''et al.'' |title=Overexpression of PDZK1 within the 1q12-q22 amplicon is likely to be associated with drug-resistance phenotype in multiple myeloma. |journal=Am. J. Pathol. |volume=165 |issue= 1 |pages= 71-81 |year= 2004 |pmid= 15215163 |doi=  }}
*{{cite journal  | author=Anzai N, Miyazaki H, Noshiro R, ''et al.'' |title=The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus. |journal=J. Biol. Chem. |volume=279 |issue= 44 |pages= 45942-50 |year= 2004 |pmid= 15304510 |doi= 10.1074/jbc.M406724200 }}
*{{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 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{protein-stub}}
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Latest revision as of 01:51, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the PDZK1 gene.[1][2]

Interactions

PDZK1 has been shown to interact with:

Related gene problems

References

  1. ↑ Kocher O, Comella N, Tognazzi K, Brown LF (March 1998). "Identification and partial characterization of PDZK1: a novel protein containing PDZ interaction domains". Lab Invest. 78 (1): 117–25. PMID 9461128.
  2. ↑ "Entrez Gene: PDZK1 PDZ domain containing 1".
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
  4. ↑ 4.0 4.1 Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR (February 2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. 278 (8): 6440–9. doi:10.1074/jbc.M211050200. PMID 12471024.
  5. ↑ Wang S, Yue H, Derin RB, Guggino WB, Li M (September 2000). "Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity". Cell. 103 (1): 169–79. doi:10.1016/s0092-8674(00)00096-9. PMID 11051556.
  6. ↑ Pribanic S, Gisler SM, Bacic D, Madjdpour C, Hernando N, Sorribas V, Gantenbein A, Biber J, Murer H (October 2003). "Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells". Am. J. Physiol. Renal Physiol. 285 (4): F784–91. doi:10.1152/ajprenal.00109.2003. PMID 12837682.
  7. ↑ Silver DL, Wang N, Vogel S (August 2003). "Identification of small PDZK1-associated protein, DD96/MAP17, as a regulator of PDZK1 and plasma high density lipoprotein levels". J. Biol. Chem. 278 (31): 28528–32. doi:10.1074/jbc.M304109200. PMID 12754212.
  8. ↑ Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S (February 2007). "Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome". Am. J. Hum. Genet. 80 (2): 232–40. doi:10.1086/510919. PMC 1785342. PMID 17236129.

Further reading


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