Disease-gene associations mined from literature

Literature associating ATP11B and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP11B [ENSP00000321195]

P4-ATPase flippase complex alpha subunit ATP11B; 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 (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane.

Synonyms:  ATP11B,  ATP11Bp,  hATP11B,  ATP11B-001,  ATP11B-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM