DISEASES

Disease-gene associations mined from literature

Literature associating FXYD1 and central nervous system melanocytic neoplasm

FXYD1 [ENSP00000481244]

Phospholemman; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone.

Synonyms:  FXYD1,  FXYD1p,  hFXYD1,  K7EQG4,  O00168 ...

Linkouts:  STRING  Pharos  UniProt