TMEM63A
Description
The TMEM63A (transmembrane protein 63A) is a protein-coding gene located on chromosome 1.
TMEM63A is a human gene encoding a protein of approximately 92.1 kDa, highly conserved across species. It features eleven transmembrane domains and localizes to the lysosome membrane. The gene is ubiquitously expressed with high levels in T-cells and dendritic cells. TMEM63A is located on chromosome 1 (1q42.12), spanning 226,033,237 to 226,070,069 base pairs on the negative strand. It produces a 4,469 base pair mRNA with 25 exons, and has 9 predicted splice isoforms, 3 of which are protein coding. The gene's promoter region is predicted to extend 971 base pairs, from 226,070,920 to 226,069,950 on the negative strand.
TMEM63A acts as an osmosensitive calcium-permeable cation channel, converting mechanical stimuli into ion flow. It functions as a mechanosensitive ion channel, responding to changes in pressure or tension.
TMEM63A is also known as HLD19, KIAA0792.
