ABCA7
Homo sapiens
Gene Name: ATP-binding cassette, sub-family A (ABC1), member 7
Aliases: ABCA-SSN, ABCX
Chromosome No: 19
Chromosome Band: 19p13.3
Genetic Category: Rare single gene variant
Aliases: ABCA-SSN, ABCX
Chromosome No: 19
Chromosome Band: 19p13.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 2
Evidence score: 3
ASD Reports: 6
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
ABCA7 showed the strongest evidence of being associated with autism (OR=8.5 0.75) with all rare variant transmission disequilibrium test (RV-TDT) methods (range of p-values, 1.4E-04 to 2.9E-04) that were used to analyze exome data from 199 autism trios from the Simons Simplex Collection (He et al., 2014).
Molecular Function
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. It plays a role in phagocytosis by macrophages of apoptotic cells and may function in apolipoprotein-mediated phospholipid efflux from cells, mediate cholesterol efflux, and regulate cellular ceramide homeostasis during keratinocytes differentiation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
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
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
