Entity Details

Primary name T126A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H061
EntryNameT126A_HUMAN
FullNameTransmembrane protein 126A
TaxID9606
Evidenceevidence at protein level
Length195
SequenceStatuscomplete
DateCreated2007-01-09
DateModified2021-06-02

Ontological Relatives

GenesTMEM126A

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
GO:0021554 optic nerve development
GO:0032981 mitochondrial respiratory chain complex I assembly

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR009801 Transmembrane protein 126FamilyFamily

Diseases

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Disease IDSourceNameDescription
612989 OMIMOptic 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

InteractorPartnerSourcesPublicationsLink
T126A_HUMANFXL17_HUMANBioGRID31560077 details