ASS1
Homo sapiens
Gene Name: argininosuccinate synthetase
Aliases: ASS1, CTLN1
Chromosome No: 9
Chromosome Band: 9q34.11
Genetic Category: Functional-Rare single gene variant
Aliases: ASS1, CTLN1
Chromosome No: 9
Chromosome Band: 9q34.11
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 8
Evidence score: 0
ASD Reports: 4
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 8
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Differential expression of the ASS1 gene has been shown to occur in some autistic individuals (Hu et al., 2006).
Molecular Function
The encoded protein has argininosuccinate synthase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Highly Cited
Coinduction of nitric oxide synthase and argininosuccinate synthetase in a murine macrophage cell line. Implications for regulation of nitric oxide...
Recent Recommendation
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
