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CHKB

CHKB

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

What is the official name of the CHKB gene?

The official name of this gene is “choline kinase beta.”

CHKB is the gene's official symbol. The CHKB gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CHKB gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the CHKB gene related to health conditions?

Genetics Home Reference provides information about narcolepsy, which is associated with changes in the CHKB gene.
NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CHKB gene.
  • Muscular dystrophy, congenital, megaconial type[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the CHKB gene located?

Cytogenetic Location: 22q13.33

Molecular Location on chromosome 22: base pairs 50,578,957 to 50,582,998

The CHKB gene is located on the long (q) arm of chromosome 22 at position 13.33.

The CHKB gene is located on the long (q) arm of chromosome 22 at position 13.33.

More precisely, the CHKB gene is located from base pair 50,578,957 to base pair 50,582,998 on chromosome 22.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CHKB?

You and your healthcare professional may find the following resources about CHKB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CHKB gene or gene products?

  • CHETK
  • CHKL
  • CK
  • CKB
  • CKEKB
  • EK
  • EKB
  • MDCMC

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CHKB?

congenital ; enzyme ; expressed ; gene ; in vitro ; in vivo ; kinase ; locus ; muscular dystrophy ; phospholipid ; phosphorylation ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 7, 2014