Choline Kinase, Beta

Alternative Names

  • CHKB
  • CKB
  • Choline Kinase-Like Protein
  • CHKL
  • Choline/Ethanolamine Kinase, Beta
  • CKEKB
  • Ethanolamine Kinase, Beta
  • EKB
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OMIM Number

612395

NCBI Gene ID

1120

Uniprot ID

Q9Y259

Length

3,887 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Choline/ethanolamine kinase

Molecular Mass

45271 Da

Amino Acid Count

395

Genomic Location

chr22:50,578,963-50,582,849

Gene Map Locus
22q13.33

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005198.5:c.927+1G>ASaudi ArabiaNC_000022.11:g.50579973C>TLikely PathogenicMuscular Dystrophy, Congenital, Megaconial TypeNG_012643.1:g.3695G>A; NM_005198.5:c.927+1G>A; NP_005189.2:p.?
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