Aliases for PANK1 Gene
External Ids for PANK1 Gene
Previous HGNC Symbols for PANK1 Gene
Previous GeneCards Identifiers for PANK1 Gene
This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
GeneCards Summary for PANK1 Gene
PANK1 (Pantothenate Kinase 1) is a Protein Coding gene. Diseases associated with PANK1 include Neurodegeneration With Brain Iron Accumulation 1 and Choreoacanthocytosis. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK2.
UniProtKB/Swiss-Prot Summary for PANK1 Gene
Plays a role in the physiological regulation of the intracellular CoA concentration.