Gene Symbol | TRIP4 |
Entrez Gene ID | 9325 |
Full Name | thyroid hormone receptor interactor 4 |
Synonyms | ASC-1,ASC1,HsT17391,MDCDC,SMABF1,ZC2HC5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spinal muscular atrophy with congenital bone fractures 1, 616866 (3); ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3) |