ICA1
Homo sapiens
Gene Name: islet cell autoantigen 1
Aliases: ICA69, ICAp69
Chromosome No: 7
Chromosome Band: 7p21.3
Genetic Category: Rare single gene variant-Multigenic CNV-
Aliases: ICA69, ICAp69
Chromosome No: 7
Chromosome Band: 7p21.3
Genetic Category: Rare single gene variant-Multigenic CNV-
Summary Statistics:
ASD Reports: 10
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 8
Evidence score: 2
ASD Reports: 10
Recent Reports: 2
Annotated variants: 15
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare duplication in the ICA1 gene has been identified with ASD (Salyakina et al., 2011).
Molecular Function
This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
ASD
ID
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Recent Recommendation
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
ASD, SCZ
Recent Recommendation
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
