Disease-gene associations mined from literature

Literature associating ATP11C and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP11C [ENSP00000332756]

P4-ATPase flippase complex alpha subunit ATP11C; 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. Required for B cell differentiation past the pro-B cell stage. Seems to mediate phosphatidylserine (PS) flipping in pro-B cells. May be involved in the transport of cholestatic bile acids (By similarity); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

Synonyms:  ATP11C,  ATP11Cp,  hATP11C,  ATP11C-001,  ATP11C-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM