PHLPP1

Chr 18

PH domain and leucine rich repeat protein phosphatase 1

Also known as: PHLPP, PLEKHE1, PPM3A, SCOP

NCBI Gene: 23239 ENSG00000081913 UniProt: O60346

This gene encodes a serine/threonine protein phosphatase that regulates cell survival and apoptosis by dephosphorylating AKT, protein kinase C, and other signaling proteins involved in neuronal function and memory formation. Mutations cause autosomal dominant intellectual disability with seizures and behavioral abnormalities, typically presenting in early childhood. The gene is highly constrained against loss-of-function mutations, indicating that proper dosage is critical for normal neurodevelopment.

ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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