ASNS gene

asparagine synthetase (glutamine-hydrolyzing)

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

From NCBI Gene:

  • Asparagine synthetase deficiency

From UniProt:

Asparagine synthetase deficiency (ASNSD): An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity. [MIM:615574]

Cytogenetic Location: 7q21.3, which is the long (q) arm of chromosome 7 at position 21.3

Molecular Location: base pairs 97,852,117 to 97,872,542 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q21.3, which is the long (q) arm of chromosome 7 at position 21.3
  • ASNSD
  • TS11