DISEASES

Disease-gene associations mined from literature

Literature associating ATP2B4 and Schnyder corneal dystrophy

ATP2B4 [ENSP00000350310]

Plasma membrane calcium-transporting ATPase 4; Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.

Synonyms:  ATP2B4,  ATP2B4p,  hATP2B4,  A0A024R968,  A1X4Q2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM