Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3

Alternative Names

  • OPA3
  • OPA3 Gene
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OMIM Number

606580

NCBI Gene ID

80207

Uniprot ID

Q9H6K4

Length

57,376 bases

No. of Exons

4

No. of isoforms

2

Protein Name

Optic atrophy 3 protein

Molecular Mass

19996 Da

Amino Acid Count

179

Genomic Location

chr19:45,527,427-45,584,802

Gene Map Locus
19q13.32

Description

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_025136.4:c.194delSaudi ArabiaNC_000019.10:g.45553863delLikely PathogenicLikely Pathogenic3-Methylglutaconic Aciduria, Type IIING_013332.1:g.36005del; NM_025136.4:c.194del; NP_079412.1:p.Gly65AlafsTer721224406381324830
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