TMEM126A gene

transmembrane protein 126A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

From NCBI Gene:

  • Optic atrophy 7

From UniProt:

Optic atrophy 7 with or without auditory neuropathy (OPA7): A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. [MIM:612989]

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1

Molecular Location: base pairs 85,647,919 to 85,656,553 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1