Aliases: PHLPP, PLEKHE1, PPM3A, SCOP
Chromosome No: 18
Chromosome Band: 18q21.33
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 11
Evidence score: 2
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Relevance to Autism
Inherited loss-of-function (LoF) variants in the PHLPP1 gene were found to be exclusively transmitted to two ASD probands from two independent families (Wilfert et al., 2021), while additional de novo variants in this gene, including a de novo LoF variant, have also been reported in ASD probands (Zhou et al., 2022; Trost et al., 2022; More et al., 2023).
Molecular Function
This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling.
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