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ADSL

ADSL

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?

adenylosuccinate lyase deficiency - caused by mutations in the ADSL gene

More than 50 mutations in the ADSL gene have been found to cause adenylosuccinate lyase deficiency. This condition causes brain dysfunction (encephalopathy) that leads to delayed development of mental and motor skills (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. Most of the mutations involved in this condition change single protein building blocks (amino acids) in the adenylosuccinate lyase enzyme. The altered enzymes have two to 20 percent of normal function, and studies suggest they are less able to form stable purinosomes.

A reduction of adenylosuccinate lyase function, possibly due to a shortage of purinosomes, leads to buildup of SAICAR and SAMP. These substances are converted through a different reaction to succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado). Detection of these substances in body fluids can help with diagnosis of adenylosuccinate lyase deficiency. Researchers believe that SAICAr and S-Ado are toxic; damage to brain tissue caused by one or both of these substances likely underlies the neurological problems that occur in adenylosuccinate lyase deficiency.

Studies suggest that the amount of SAICAr relative to S-Ado reflects the severity of adenylosuccinate lyase deficiency. Individuals with more SAICAr than S-Ado have more severe encephalopathy and psychomotor delay.

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.

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?

  • adenylosuccinase
  • adenylosuccinate lyase isoform a
  • adenylosuccinate lyase isoform b
  • AMPS
  • ASASE
  • ASL

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.

 
Reviewed: December 2014
Published: January 27, 2015