DISEASES

Disease-gene associations mined from literature

Literature associating ATP11A and autosomal dominant Robinow syndrome 2

ATP11A [ENSP00000420387]

Probable phospholipid-transporting ATPase IH; 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). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib.

Synonyms:  ATP11A,  ATP11Ap,  hATP11A,  A0A087WVE8,  A2A3G9 ...

Linkouts:  STRING  Pharos  UniProt