Aliases for CHKB Gene
External Ids for CHKB Gene
Previous HGNC Symbols for CHKB Gene
Previous GeneCards Identifiers for CHKB Gene
Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
GeneCards Summary for CHKB Gene
CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include muscular dystrophy, congenital, megaconial type and chkb-related muscle diseases. Among its related pathways are Phospholipase D signaling pathway and Glycerophospholipid biosynthesis. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and choline kinase activity. An important paralog of this gene is ETNK2.
UniProtKB/Swiss-Prot for CHKB Gene
Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.