The ASNS gene provides instructions for making an enzyme called asparagine synthetase. This enzyme is found in cells throughout the body, where it converts the protein building block (amino acid) aspartic acid to the amino acid asparagine. Another amino acid called glutamine helps in the conversion and is itself converted to the amino acid glutamic acid during the process. It is thought that asparagine synthetase helps to maintain the normal balance of these four amino acids in the body.
Asparagine is needed to produce many proteins but also plays other roles. Asparagine helps to break down toxic ammonia within cells, is important for protein modification, and is needed for making a certain molecule that transmits signals in the brain (a neurotransmitter).
Although asparagine can be obtained through the diet, the amino acid cannot cross the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier). As a result, brain cells rely solely on asparagine synthetase to produce asparagine.
Other Names
aspartate ammonia ligase; glutamine-dependent asparagine synthetase; TS11; TS11 cell cycle control protein
Related Genetics Topics
Identifiers
- NCBI Gene: 440
- OMIM: 108370
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
