CHKB gene

choline kinase beta

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Muscular dystrophy, congenital, megaconial type

Cytogenetic Location: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33

Molecular Location: base pairs 50,578,958 to 50,582,999 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33
  • CHETK
  • CHKL
  • CK
  • CKB
  • CKEKB
  • EK
  • EKB
  • MDCMC