ATP11A
Description
The ATP11A (ATPase phospholipid transporting 11A) is a protein-coding gene located on chromosome 13.
ATP11A is a catalytic component of a P4-ATPase flippase complex. It transports aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. It does not transport phosphatidylcholine (PC). ATP11A contributes to the maintenance of membrane lipid asymmetry and has a specific role in muscle cell morphogenesis. In myoblasts, ATP11A mediates PS enrichment at the inner leaflet of the plasma membrane, triggering PIEZO1-dependent Ca2+ influx and Rho GTPases signal transduction, subsequently leading to the assembly of cortical actomyosin fibers and myotube formation. ATP11A may be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib.
ATP11A is also known as ATPIH, ATPIS, AUNA2, DFNA84, HLD24.
Associated Diseases
- Idiopathic pulmonary fibrosis
- Leukodystrophy, hypomyelinating, 24
- Deafness, autosomal dominant 84
- Auditory neuropathy, autosomal dominant 2
