Aliases for ATP13A1 Gene
External Ids for ATP13A1 Gene
Previous HGNC Symbols for ATP13A1 Gene
Previous GeneCards Identifiers for ATP13A1 Gene
GeneCards Summary for ATP13A1 Gene
ATP13A1 (ATPase 13A1) is a Protein Coding gene. Diseases associated with ATP13A1 include Cone-Rod Dystrophy, X-Linked, 1 and Kufor-Rakeb Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A4.
UniProtKB/Swiss-Prot Summary for ATP13A1 Gene
Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.