NOS1AP
Homo sapiens
Gene Name: nitric oxide synthase 1 (neuronal) adaptor protein
Aliases: CAPON
Chromosome No: 1
Chromosome Band: 1q23.3
Genetic Category: Rare single Gene variant
Aliases: CAPON
Chromosome No: 1
Chromosome Band: 1q23.3
Genetic Category: Rare single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the NOS1AP gene have been identified with autism (Delorme et al., 2010).
Molecular Function
An adaptor protein serving as regulator of neuronal nitric oxide synthase
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Highly Cited
Dexras1: a G protein specifically coupled to neuronal nitric oxide synthase via CAPON.
Highly Cited
CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95.
Highly Cited
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
Recent Recommendation
NOS1AP associates with Scribble and regulates dendritic spine development.
Recent Recommendation
CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN174R001
missense_variant
c.409G>A
p.Ala137Thr
Familial
Maternal
Multiplex
GEN174R002
missense_variant
c.1267G>A
p.Asp423Asn
Familial
Paternal
Multiplex
Common
No Common Variants Available
