PLEKHA8
Homo sapiens
Gene Name: pleckstrin homology domain containing A8
Aliases: FAPP2
Chromosome No: 7
Chromosome Band: 7p14.3
Genetic Category: Rare single gene variant
Aliases: FAPP2
Chromosome No: 7
Chromosome Band: 7p14.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 5
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified PLEKHA8 as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. De novo missense variants in this gene have also been identified in two ASD probands from the Simons Simplex Collection (Iossifov et al., 2014).
Molecular Function
The protein encoded by this gene enables several functions, including ceramide binding activity, glycolipid transfer activity, and phosphatidylinositol-4-phosphate binding activity. It is involved in ER to Golgi ceramide transport and is located in nucleoplasm and trans-Golgi network.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD