DISEASES

Disease-gene associations mined from literature

ATP13A2 disease associations

ATP13A2 [ENSP00000327214]

Cation-transporting ATPase 13A2; ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity . Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957). Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post- translational levels . ECO:0000269|PubMed:22296644, ECO:0000269|PubMed:27278822,; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.

Synonyms:  ATP13A2,  ATP13A2p,  hATP13A2,  A0A087WUM9,  H0Y8I1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM