BICDL1
Homo sapiens
Gene Name: BICD family like cargo adaptor 1
Aliases: BICDR-1, BICDR1,CCDC64, CCDC64A, H_267D11.1
Chromosome No: 12
Chromosome Band: 12q24.23
Genetic Category: Genetic Association
Aliases: BICDR-1, BICDR1,CCDC64, CCDC64A, H_267D11.1
Chromosome No: 12
Chromosome Band: 12q24.23
Genetic Category: Genetic Association
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 5
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 5
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the BICDL1 gene (formerly known as the CCDC64 gene) and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
This protein is a component of the secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD