DISEASES

Disease-gene associations mined from literature

Literature associating ATP8B3 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATP8B3 [ENSP00000311336]

ATPase, aminophospholipid transporter, class I, type 8B, member 3; P4-ATPase flippase 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 be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

Synonyms:  ATP8B3,  ATP8B3p,  hATP8B3,  F5GZM8,  F5H3R9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM