ADSSL1 (gene)

ADSSL1 is a gene that provides instructions for making an enzyme called adenylosuccinate synthetase. This enzyme is involved in the production of purine molecules, which are building blocks of DNA, RNA, and other molecules. The ADSSL1 gene is located on the long (q) arm of chromosome 14 at position 32.3.

Function

The ADSSL1 gene provides instructions for making an enzyme called adenylosuccinate synthetase, which is involved in the production of purine molecules. Purines are key components of DNA, RNA, and other molecules. They are also involved in regulating the amount of phosphorus in the body and the breakdown of proteins.

Clinical significance

Mutations in the ADSSL1 gene can lead to a condition known as adenylosuccinate lyase deficiency. This condition is characterized by mental retardation, seizures, and problems with movement and balance. It is a rare condition, affecting less than 1 in 1,000,000 people worldwide.

Genetics

The ADSSL1 gene is located on the long (q) arm of chromosome 14 at position 32.3. More precisely, the ADSSL1 gene is located from base pair 89,065,421 to base pair 89,091,889 on chromosome 14.

See also

• Adenylosuccinate lyase deficiency
• Purine metabolism
• Chromosome 14 (human)

External links

• [1] NCBI Gene
• [2] Genetics Home Reference
• [3] GeneCards