OPA1 OPA1 mitochondrial dynamin like GTPase

Gene ID: 4976, updated on 24-Sep-2023
Gene type: protein coding
Also known as: NPG; NTG; MGM1; BERHS; largeG; MTDPS14

Summary

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. 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. [provided by RefSeq, Aug 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Abortive cerebellar ataxia MedGen: C0221061OMIM: 210000GeneReviews: Mitochondrial DNA Maintenance Defects Overview	See labs
Autosomal dominant optic atrophy classic form MedGen: C0338508OMIM: 165500GeneReviews: Optic Atrophy Type 1	See labs
Glaucoma, normal tension, susceptibility to MedGen: C1847730OMIM: 606657GeneReviews: Not available	See labs
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MedGen: C4225163OMIM: 616896GeneReviews: Mitochondrial DNA Maintenance Defects Overview	See labs
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MedGen: C3276549OMIM: 125250GeneReviews: Not available	See labs

Genomic context

Location:: 3q29

Sequence:: Chromosome: 3; NC_000003.12 (193593208..193697811)

Total number of exons:: 34

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for OPA1 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
OPA1 database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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