ASNS

Chr 7AR

asparagine synthetase (glutamine-hydrolyzing)

Also known as: ASNSD, TS11

NCBI Gene: 440 ENSG00000070669 UniProt: P08243 OMIM: 108370

The protein is asparagine synthetase, which synthesizes the amino acid asparagine from aspartic acid and glutamine. Mutations cause asparagine synthetase deficiency, an autosomal recessive disorder characterized by severe neurological impairment, seizures, and developmental delays typically manifesting in early infancy. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Asparagine synthetase deficiencyMIM #615574

Clinical highlights

Gene-disease validity (ClinGen)

congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

LOF

Mechanism· G2P

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GeneReview available — ASNS