Entity Details
| Primary name |
T126A_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9H061 |
| EntryName | T126A_HUMAN |
| FullName | Transmembrane protein 126A |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 195 |
| SequenceStatus | complete |
| DateCreated | 2007-01-09 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion inner membrane |
Domains
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| Domain | Name | Category | Type |
| IPR009801 | Transmembrane protein 126 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 612989 | OMIM | 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction