OPA3

OPA3
Identifiers
AliasesOPA3, MGA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), outer mitochondrial membrane lipid metabolism regulator, OPA3 outer mitochondrial membrane lipid metabolism regulator, outer mitochondrial membrane lipid metabolism regulator OPA3
External IDsOMIM: 606580; MGI: 2686271; GeneCards: OPA3
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

80207

403187

Ensembl

ENSG00000125741

ENSMUSG00000052214

UniProt

Q9H6K4

Q505D7

RefSeq (mRNA)

NM_001017989
NM_025136

NM_207525

RefSeq (protein)

NP_001017989
NP_079412

NP_997408

Location (UCSC)Chr 19: 45.53 – 45.6 MbChr 7: 18.96 – 18.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[5][6][7]

Clinical significance

Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene.[8] In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125741 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052214 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, et al. (April 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". Human Molecular Genetics. 6 (4): 563–569. doi:10.1093/hmg/6.4.563. PMID 9097959.
  6. ^ Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (December 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". American Journal of Human Genetics. 69 (6): 1218–1224. doi:10.1086/324651. PMC 1235533. PMID 11668429.
  7. ^ "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".
  8. ^ "Costeff syndrome". Genetics Home Reference. Retrieved 2017-05-28.
  9. ^ Wells T, Davies JR, Guschina IA, Ball DJ, Davies JS, Davies VJ, et al. (November 2012). "Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome". Human Molecular Genetics. 21 (22): 4836–4844. doi:10.1093/hmg/dds315. PMID 22869679.

Further reading

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