APH1A
Homo sapiens
Gene Name: APH1A gamma secretase subunit
Aliases: RP4-790G17.3, 6530402N02Rik, APH-1, APH-1A, CGI-78
Chromosome No: 1
Chromosome Band: 1q21.2
Genetic Category: Rare single gene variant
Aliases: RP4-790G17.3, 6530402N02Rik, APH-1, APH-1A, CGI-78
Chromosome No: 1
Chromosome Band: 1q21.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was identified in an ASD whole-exome sequencing study and subsequent TADA (transmission and de novo association) analysis as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (De Rubeis et al., 2014).
Molecular Function
This gene encodes an essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
