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: 8
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 12
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
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.
ASD
Support
Deleterious coding variation associated with autism is shared across ancestries.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
