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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for OPA1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4976
Official gene symbolOPA1
Full nameoptic atrophy 1 (autosomal dominant)
Aliases,FLJ12460,KIAA0567,MGM1,NPG,NTG,largeG,
Gene summaryThis gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 3   Locus: 3q28-q29|3q28-q29
Gene position193310933 - 193415600  Map Viewer
Gene orientationplus
Gene size104668 bp
Gene sequence
OMIM ID605290