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{{Infobox_gene}}
{{PBB_Controls
'''Optic atrophy 3 protein''' is a [[protein]] that in humans is encoded by the ''OPA3'' [[gene]].<ref name="pmid9097959">{{cite journal | vauthors = Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC | author-link2= Hanan Costeff | title = Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene | journal = Hum Mol Genet | volume = 6 | issue = 4 | pages = 563–9 |date=Jul 1997 | pmid = 9097959 | pmc =  | doi =10.1093/hmg/6.4.563  }}</ref><ref name="pmid11668429">{{cite journal | vauthors = Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O | title = Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews | journal = Am J Hum Genet | volume = 69 | issue = 6 | pages = 1218–24 |date=Nov 2001 | pmid = 11668429 | pmc = 1235533 | doi = 10.1086/324651 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80207| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==See also==
{{GNF_Protein_box
* [[3-Methylglutaconic aciduria]]
| image =
| image_source =
| PDB =
| Name = Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
| HGNCid = 8142
| Symbol = OPA3
| AltSymbols =; FLJ22187; FLJ25932; MGA3; MGC75494
| OMIM = 606580
| ECnumber =
| Homologene = 57022
| MGIid = 2686271
| GeneAtlas_image1 = PBB_GE_OPA3_206357_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 80207
    | Hs_Ensembl = ENSG00000125741
    | Hs_RefseqProtein = NP_001017989
    | Hs_RefseqmRNA = NM_001017989
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 19
    | Hs_GenLoc_start = 50722525
    | Hs_GenLoc_end = 50779940
    | Hs_Uniprot = Q9H6K4
    | Mm_EntrezGene = 403187
    | Mm_Ensembl = ENSMUSG00000052214
    | Mm_RefseqmRNA = NM_207525
    | Mm_RefseqProtein = NP_997408
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 18386875
    | Mm_GenLoc_end = 18405158
    | Mm_Uniprot = 
  }}
}}
'''Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)''', also known as '''OPA3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80207| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==References==
{{PBB_Summary
{{reflist}}
| section_title =
| summary_text =
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
| citations =
*{{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 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
*{{cite journal   |vauthors=Kleta R, Skovby F, Christensen E, etal |title=3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings |journal=Mol. Genet. Metab. |volume=76 |issue= 3 |pages= 201–6 |year= 2003 |pmid= 12126933 |doi=10.1016/S1096-7192(02)00047-1 }}
*{{cite journal  | author=Nystuen A, Costeff H, Elpeleg ON, ''et al.'' |title=Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. |journal=Hum. Mol. Genet. |volume=6 |issue= 4 |pages= 563-9 |year= 1997 |pmid= 9097959 |doi= }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 | pmc=139241 }}
*{{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=GARCIN R, RAVERDY P, DELTHIL S, etal |title=[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.] |journal=Rev. Neurol. (Paris) |volume=104 |issue=  |pages= 373–9 |year= 1998 |pmid= 13703570 |doi=  }}
*{{cite journal  | author=Anikster Y, Kleta R, Shaag A, ''et al.'' |title=Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1218-24 |year= 2002 |pmid= 11668429 |doi=  }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |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=Kleta R, Skovby F, Christensen E, ''et al.'' |title=3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. |journal=Mol. Genet. Metab. |volume=76 |issue= 3 |pages= 201-6 |year= 2003 |pmid= 12126933 |doi=  }}
*{{cite journal   |vauthors=Reynier P, Amati-Bonneau P, Verny C, etal |title=OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract |journal=J. Med. Genet. |volume=41 |issue= 9 |pages= e110 |year= 2005 |pmid= 15342707 |doi= 10.1136/jmg.2003.016576 | pmc=1735897 }}
*{{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=Gerhard DS, Wagner L, Feingold EA, etal |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 | pmc=528928 }}
*{{cite journal | author=GARCIN R, RAVERDY P, DELTHIL S, ''et al.'' |title=[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.] |journal=Rev. Neurol. (Paris) |volume=104 |issue=  |pages= 373-9 |year= 1998 |pmid= 13703570 |doi=  }}
*{{cite journal   |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to Biology: A Functional Genomics Pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
*{{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   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Reynier P, Amati-Bonneau P, Verny C, ''et al.'' |title=OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. |journal=J. Med. Genet. |volume=41 |issue= 9 |pages= e110 |year= 2005 |pmid= 15342707 |doi= 10.1136/jmg.2003.016576 }}
*{{cite journal   |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
*{{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  | vauthors=Fink N, Mouallem M |title=[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor] |journal=Harefuah |volume=145 |issue= 6 |pages= 402–3, 472 |year= 2006 |pmid= 16838891 |doi=  }}
*{{cite journal | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
*{{cite journal  | author=Fink N, Mouallem M |title=[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor] |journal=Harefuah |volume=145 |issue= 6 |pages= 402-3, 472 |year= 2006 |pmid= 16838891 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mga3  GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3]
* [https://www.ncbi.nlm.nih.gov/omim/210000,258501,606580,258501,606580  OMIM entries on 3-Methylglutaconic Aciduria Type 3]
 
 
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Latest revision as of 18:46, 22 September 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[1][2][3]

See also

References

  1. ↑ Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC (Jul 1997). "Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene". Hum Mol Genet. 6 (4): 563–9. doi:10.1093/hmg/6.4.563. PMID 9097959.
  2. ↑ Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (Nov 2001). "Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews". Am J Hum Genet. 69 (6): 1218–24. doi:10.1086/324651. PMC 1235533. PMID 11668429.
  3. ↑ "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".

Further reading

External links


Retrieved from "https://www.wikidoc.org/index.php?title=OPA3&oldid=1529888"