OPA3

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[4][5][6]

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 HomoloGene: 57022 GeneCards: OPA3
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.32Start45,527,427 bp[1]
End45,602,212 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

80207

403187

Ensembl

ENSG00000125741

n/a

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 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000125741 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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.
  5. 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.
  6. "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".

Further reading


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