NOS1
Homo sapiens
Gene Name: nitric oxide synthase 1
Aliases: IHPS1, N-NOS, NC-NOS, NOS, bNOS, nNOS
Chromosome No: 12
Chromosome Band: 12q24.22
Genetic Category: Rare single gene variant
Aliases: IHPS1, N-NOS, NC-NOS, NOS, bNOS, nNOS
Chromosome No: 12
Chromosome Band: 12q24.22
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
