ADSS2
Homo sapiens
Gene Name: adenylosuccinate synthase 2
Aliases: ADEH, ADSS, ADSS 2
Chromosome No: 1
Chromosome Band: 1q44
Genetic Category: Rare single gene variant-
Aliases: ADEH, ADSS, ADSS 2
Chromosome No: 1
Chromosome Band: 1q44
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 4
Evidence score: 2
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD