ACHE
Homo sapiens
Gene Name: Acetylcholinesterase (Yt blood group)
Aliases: ACEE, ARACHE, N-ACHE, YT
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Rare single gene variant-
Aliases: ACEE, ARACHE, N-ACHE, YT
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 3
Evidence score: 3
ASD Reports: 7
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015).
Molecular Function
Acetylcholinesterase hydrolyzes the neurotransmitter acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. Role in neuronal apoptosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolesce...
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD