MPHOSPH8
Chr 13M-phase phosphoprotein 8
Also known as: HSMPP8, TWA3, mpp8
MPHOSPH8 encodes a heterochromatin component that recognizes methylated histone H3K9 and promotes epigenetic gene silencing through recruitment of DNA methyltransferases and chromatin remodeling complexes, particularly silencing transposable elements and interferon-stimulated genes. Mutations cause neurodevelopmental disorder with epilepsy, spasticity, and brain abnormalities, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.525), consistent with its critical role in chromatin regulation and neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MPHOSPH8 · 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 →External Resources
Links to major genomics databases and tools