CHRNB3
Homo sapiens
Gene Name: cholinergic receptor nicotinic beta 3 subunit
Aliases:
Chromosome No: 8
Chromosome Band: 8p11.21
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 8
Chromosome Band: 8p11.21
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 19
Evidence score: 0
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 19
Evidence score: 0
| Associated Disorders: |
|
Relevance to Autism
Two novel overlapping CNVs involving the CHRNB3 gene were identified in unrelated ASD cases in Prasad et al., 2012; however, these CNVs resided within an intronic region of the gene, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete (i.e., not all affected siblings were positive for the CNV).
Molecular Function
The CHRNB3 gene encodes for a member of a superfamily of ligand-gated ion channels (the nicotinic acetylcholine receptors, or nAChRs) that mediate fast signal transmission at synapses.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
