DISEASES

Disease-gene associations mined from literature

Literature associating ATP2B1 and nuclear senile cataract

ATP2B1 [ENSP00000392043]

Plasma membrane calcium-transporting ATPase 1; Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells ; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.

Synonyms:  ATP2B1,  ATP2B1p,  hATP2B1,  A0A024RBC7,  A0A0U1RQU3 ...

Linkouts:  STRING  Pharos  UniProt