ASNS asparagine synthetase (glutamine-hydrolyzing)

Gene ID: 440, updated on 2-Nov-2024
Gene type: protein coding
Also known as: TS11; ASNSD

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MedGen: C3809971OMIM: 615574GeneReviews: Asparagine Synthetase Deficiency	See labs

Genomic context

Location:: 7q21.3

Sequence:: Chromosome: 7; NC_000007.14 (97851677..97928441, complement)

Total number of exons:: 16

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ASNS variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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