OPA3

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

OPA3
Identifiers
Aliases	OPA3, 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 IDs	OMIM: 606580; MGI: 2686271; HomoloGene: 57022; GeneCards: OPA3; OMA:OPA3 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.32 Start 45,527,767 bp[1] End 45,602,212 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 A3 Start 18,962,259 bp[2] End 18,990,468 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii muscle of thigh apex of heart gonad gastrocnemius muscle left ventricle gingival epithelium stromal cell of endometrium right auricle of heart buccal mucosa cell Top expressed in interventricular septum triceps brachii muscle sternocleidomastoid muscle right ventricle temporal muscle digastric muscle extraocular muscle vastus lateralis muscle ankle epithelium of stomach More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse 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 Mb Chr 7: 18.96 – 18.99 Mb PubMed search [3] [4]
Wikidata
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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

• 3-Methylglutaconic aciduria