ATPase phospholipid transporting 11C (ATP11C blood group)
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Moderate Evidence (Amber)
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCongenital hemolytic anemia
neutropenia, severe congenital, 2, autosomal dominant
autosomal dominant severe congenital neutropenia
Rh deficiency syndrome
neonatal intrahepatic cholestasis due to citrin deficiency
dehydrated hereditary stomatocytosis
Familial hemophagocytic lymphohistiocytosis
hereditary elliptocytosis
Hemolytic anemia due to red cell pyruvate kinase deficiency
hyperlipoproteinemia type V
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Phospholipid-transporting ATPase IG
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane (PubMed:24904167, PubMed:25315773, PubMed:26567335, PubMed:32493773). Major PS-flippase in immune cell subsets. In erythrocyte plasma membrane, it is required to maintain PS in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for erythrocyte clearance by splenic macrophages (PubMed:26944472). Required for B cell differentiation past the pro-B cell stage (By similarity). Seems to mediate PS flipping in pro-B cells (By similarity). May be involved in the transport of cholestatic bile acids (By similarity)
ATP11C · Q8NB49
Mean pLDDT
82.9/ 100
Confident
1,132 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
