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Reviewed December 2014
What is the official name of the ADSL gene?
The official name of this gene is “adenylosuccinate lyase.”
ADSL is the gene's official symbol. The ADSL 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 ADSL gene?
The ADSL gene provides instructions for making an enzyme called adenylosuccinate lyase. This enzyme performs two steps in the process that produces (synthesizes) purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP that serve as energy sources in the cell. Adenylosuccinate lyase and other enzymes involved in purine synthesis form a group of proteins (a protein complex) called the purinosome. This complex comes together when there is a shortage of purines or when a large amount of purines is needed, such as during cell division. As part of this complex, adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP).
How are changes in the ADSL gene related to health conditions?
Where is the ADSL gene located?
Cytogenetic Location: 22q13.2
Molecular Location on chromosome 22: base pairs 40,346,499 to 40,366,572
The ADSL gene is located on the long (q) arm of chromosome 22 at position 13.2.
More precisely, the ADSL gene is located from base pair 40,346,499 to base pair 40,366,572 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ADSL?
You and your healthcare professional may find the following resources about ADSL 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 ADSL 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 ADSL?
acids ; ATP ; cell ; cell division ; deficiency ; diagnosis ; DNA ; encephalopathy ; enzyme ; gene ; molecule ; motor ; neurological ; protein ; psychomotor ; purines ; RNA ; synthesis ; tissue ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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.