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The protein encoded by TMEM126A is a mitochondrial membrane protein of unknown function.
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TMEM126A contributes to the TLR4 (show TLR4 Proteins) signal up-regulating the expression of genes whose products are involved in antigen presentation.
TMEM126A binds to the extracellular domain of CD137L (show TNFSF9 Proteins) and is detected on cell surface by flow cytometry, cell surface expression of TMEM126A may be essential for CD137L (show TNFSF9 Proteins) reverse signaling.
TMEM126A is a mitochondrial located mRNA (MLR (show NR3C2 Proteins)) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane
The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy.
The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described.
TMEM126A encodes a transmembrane mitochondrial protein (show COX6B2 Proteins) of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.
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.
transmembrane protein 126A
, Transmembrane protein 126A
, transmembrane protein 126a