AKT3

Chr 1AD

AKT serine/threonine kinase 3

Also known as: MPPH, MPPH2, PKB-GAMMA, PKBG, PRKBG, RAC-PK-gamma, RAC-gamma, STK-2

NCBI Gene: 10000 ENSG00000117020 UniProt: Q9Y243 OMIM: 611223

The protein is a serine/threonine kinase that regulates cell signaling in response to insulin and growth factors, controlling cell proliferation, differentiation, apoptosis, and glucose metabolism. Loss-of-function mutations cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, inherited in an autosomal dominant pattern. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency as the likely pathogenic mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2MIM #615937

Clinical highlights

Gene-disease validity (ClinGen)

overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

140

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.18

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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