PAFAH1B2
Homo sapiens
Gene Name: platelet activating factor acetylhydrolase 1b catalytic subunit 2
Aliases: HEL-S-303
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare single gene variant
Aliases: HEL-S-303
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 5
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants and one de novo frameshift variant in the PAFAH1B2 gene have been observed in ASD probands (Iossifov et al., 2014; Yuen et al., 2017; Du et al., 2019). TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified PAFAH1B2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD
