OPA3
Sign in to saveAlso 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.
In the Vinony graph
Vinony's link graph records 5 inbound references to OPA3, and connects out to PubMed, human chromosome 19 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 19.
Vinony links it to 6 Wikipedia language editions.
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
Cellular component
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 57022
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/80207
- genomic end
- 46105470
- genomic start
- 45527767
- chromosome
- human chromosome 19
- cytogenetic location
- 19q13.32
Sources (6)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- 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
Excerpted from Wikipedia’s “OPA3” article, available under the CC BY-SA 4.0 licence.