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MPPH3
Chr 12ADcyclin D2
Also known as: KIAK0002, MPPH3
The encoded cyclin protein regulates CDK4 and CDK6 kinases to control cell cycle G1/S transition and is involved in phosphorylation of the tumor suppressor protein Rb. Mutations cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, a multisystem disorder affecting brain development, limb formation, and cerebrospinal fluid dynamics. This follows autosomal dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MPPH3?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
MPPH3 · 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.
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Links to major genomics databases and tools