NP_001231664.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
21,527 Da
NCBI Official Full Name
transmembrane protein 126A isoform 2
NCBI Official Synonym Full Names
transmembrane protein 126A
NCBI Official Synonym Symbols
NCBI Protein Information
transmembrane protein 126A
UniProt Protein Name
Transmembrane protein 126A
UniProt Entry Name
T126A_HUMAN
NCBI Summary for TMEM126A
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]
UniProt Comments for TMEM126A
TMEM126A: Defects in TMEM126A are the cause of optic atrophy type 7 (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. Belongs to the TMEM126 family.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q14.1
Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane
Biological Process: optic nerve development
Disease: Optic Atrophy 7 With Or Without Auditory Neuropathy
Research Articles on TMEM126A
Precautions
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Pathways associated with TMEM126A elisa kit
Diseases associated with TMEM126A elisa kit
Organs/Tissues associated with TMEM126A elisa kit
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