OPA3

Also known as MGA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), OPA3, outer mitochondrial membrane lipid metabolism regulator, OPA3 outer mitochondrial membrane lipid metabolism regulator, outer mitochondrial membrane lipid metabolism regulator OPA3

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.

Gene data

OPA3

Name: outer mitochondrial membrane lipid metabolism regulator OPA3
Type: protein-coding
Position: 45,527,767–45,602,212 (−)
Aliases: MGA3
Ensembl: ENSG00000125741
RefSeq RNA: NM_001017989.3, NM_025136.4, XM_006723403.5, XM_054322228.1
RefSeq protein: NP_001017989.2, NP_079412.1, XP_006723466.1, XP_054178203.1

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. [provided by RefSeq, Oct 2009].

Gene Ontology

Biological process

visual perception regulation of lipid metabolic process

Cellular component

mitochondrion mitochondrion mitochondrion mitochondrion mitochondrion

via MyGene.info

Gene · Ensembl

outer mitochondrial membrane lipid metabolism regulator OPA3

Symbol: OPA3
Biotype: Protein coding
Organism: Homo sapiens
Location: 19:45,527,767-45,602,212
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 57022
exact match: identifiers.org/ncbigene/80207
genomic end: 46105470
genomic start: 45527767
cytogenetic location: 19q13.32

Sources (6)

via Wikidata · CC0

~1 min read

Article

5 sections

Contents

Clinical significance
See also
References
Further reading
External links

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.

==Clinical significance== Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene. In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature. == See also == 3-Methylglutaconic aciduria