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Reviewed February 2013
What is the official name of the CPS1 gene?
The official name of this gene is “carbamoyl-phosphate synthase 1, mitochondrial.”
CPS1 is the gene's official symbol. The CPS1 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 CPS1 gene?
The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea cycle, a series of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, generated when protein is used by the body, into a compound called urea that is excreted by the kidneys. Excreting the excess nitrogen prevents it from accumulating in the form of ammonia, which is toxic.
The specific role of carbamoyl phosphate synthetase I is to control the first step of the urea cycle, a reaction in which excess nitrogen compounds are incorporated into the cycle to be processed.
How are changes in the CPS1 gene related to health conditions?
Where is the CPS1 gene located?
Cytogenetic Location: 2q35
Molecular Location on chromosome 2: base pairs 211,342,405 to 211,543,830
The CPS1 gene is located on the long (q) arm of chromosome 2 at position 35.
More precisely, the CPS1 gene is located from base pair 211,342,405 to base pair 211,543,830 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CPS1?
You and your healthcare professional may find the following resources about CPS1 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 CPS1 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 CPS1?
amino acid ; ammonia ; bone marrow ; compound ; deficiency ; enzyme ; excretion ; gene ; nervous system ; neurological ; phosphate ; polymorphism ; protein ; protein sequence ; threonine ; toxic ; urea
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.