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MPPH2
Chr 1ADAKT serine/threonine kinase 3
Also known as: MPPH, MPPH2, PKB-GAMMA, PKBG, PRKBG, RAC-PK-gamma, RAC-gamma, STK-2
The protein is an AKT serine/threonine kinase that regulates cell signaling in response to insulin and growth factors, controlling cell proliferation, differentiation, apoptosis, and glucose metabolism. Mutations cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, a complex developmental disorder affecting brain structure and limb formation. Inheritance is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MPPH2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MPPH2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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External Resources
Links to major genomics databases and tools