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
The contribution of de novo coding mutations to 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
