TRIP4
Chr 15ARthyroid hormone receptor interactor 4
Also known as: ASC-1, ASC1, HsT17391, MDCDC, SMABF1, ZC2HC5
This protein functions as a transcription coactivator that associates with nuclear receptors and basal transcription factors to facilitate gene transcription, and also plays a role in ribosome quality control during protein translation. Mutations cause spinal muscular atrophy with congenital bone fractures type 1 and congenital muscular dystrophy (Davignon-Chauveau type), both presenting in early infancy with severe muscle weakness and bone fragility. These conditions follow autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRIP4 · 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