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MPPH1
Chr 19ADphosphoinositide-3-kinase regulatory subunit 2
Also known as: MPPH, MPPH1, P85B, p85, p85-BETA, p85beta
The protein encoded by this gene is a regulatory component of phosphatidylinositol 3-kinase (PI3K), a lipid kinase that phosphorylates phosphatidylinositol to create second messengers in growth signaling pathways. Mutations cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, which affects brain development 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/MPPH1?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
MPPH1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools