Disease-gene associations mined from literature

Literature associating ATP2A1 and Hailey-Hailey disease

ATP2A1 [ENSP00000349595]

Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform; Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.

Synonyms:  ATP2A1,  ATP2A1p,  hATP2A1,  B3KS35,  H3BTF1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM