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Reviewed July 2011
What is the official name of the CBS gene?
The official name of this gene is “cystathionine-beta-synthase.”
CBS is the gene's official symbol. The CBS 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 CBS gene?
The CBS gene provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for using vitamin B6 to convert building block of proteins (amino acid) called homocysteine and serine to a molecule called cytathionine. Another enzyme then converts cystathionine to the amino acid cysteine, which is used to build proteins or is broken down and excreted in urine. Additionally, other amino acids, including methionine, are produced in this pathway.
How are changes in the CBS gene related to health conditions?
Where is the CBS gene located?
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 44,473,300 to 44,496,471
The CBS gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the CBS gene is located from base pair 44,473,300 to base pair 44,496,471 on chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CBS?
You and your healthcare professional may find the following resources about CBS 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 CBS gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 CBS?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
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.