DISEASES

Disease-gene associations mined from literature

Literature associating ATP13A1 and X-linked cone-rod dystrophy 1

ATP13A1 [ENSP00000349877]

Manganese-transporting ATPase 13A1; Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.

Synonyms:  ATP13A1,  ATP13A1p,  hATP13A1,  A0A024R7N2,  A0A024R7P3 ...

Linkouts:  STRING  Pharos  UniProt