TRIP4

Chr 15AR

thyroid hormone receptor interactor 4

Also known as: ASC-1, ASC1, HsT17391, MDCDC, SMABF1, ZC2HC5

NCBI Gene: 9325 ENSG00000103671 UniProt: Q15650 OMIM: 604501

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Muscular dystrophy, congenital, Davignon-Chauveau typeMIM #617066

Spinal muscular atrophy with congenital bone fractures 1MIM #616866

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.67

LOEUF

LOF

Mechanism· G2P