Disease-gene associations mined from literature

Literature associating ATP8B1 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP8B1 [ENSP00000445359]

ATPase, aminophospholipid transporter, class I, type 8B, member 1; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury.

Synonyms:  ATP8B1,  ATP8B1p,  hATP8B1,  ATP8B1-001,  ATP8B1-002 ...

Linkouts:  STRING  Pharos  UniProt