TMEM126A
Description
The TMEM126A (transmembrane protein 126A) is a protein-coding gene located on chromosome 11.
TMEM126A, also known as Transmembrane protein 126A, is a mitochondrial transmembrane protein with an unknown function. It is encoded by the TMEM126A gene and has been linked to optic atrophy due to a nonsense mutation. Interestingly, TMEM126A exhibits higher expression levels in the parathyroid gland and peripheral blood cells of Huntington's disease patients, suggesting a possible role in blood regulation. TMEM126A has two isoforms and is located on the long arm of chromosome 11, specifically at 11q14.1. The TMEM126 gene produces a mRNA transcript of 726 base pairs, which translates into a protein of 195 amino acids. Notably, this gene exhibits expression levels 1.8 times higher than the average gene and is expressed in various tissues, including the prostate, uterus, kidney, placenta, heart, brain, and others.
TMEM126A plays a crucial role in the assembly of the ND4 module within mitochondrial complex I. It associates with newly synthesized polypeptides and functions as a chaperone that works alongside OXA1L to ensure the proper insertion of these proteins into the inner mitochondrial membrane. This process is vital for the cotranslational quality control within the mitochondria, ensuring the correct folding and integration of mitochondrial proteins. Furthermore, TMEM126A interacts with OXA1L, facilitating this cotranslational quality control and ensuring the efficient assembly of mitochondrial complexes.
TMEM126A is also known as OPA7.
