TRIP4 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TRIP4 wild-type allele is located in the vicinity of 15q22.31 and is approximately 68 kb in length. This allele, which encodes activating signal cointegrator 1 protein, plays a role in translational quality control and the promotion of nuclear receptor-mediated transcription. Mutations in the gene are associated with Davignon-Chauveau type congenital muscular dystrophy and spinal muscular atrophy with congenital bone fractures 1.

**Synonyms:** - ASC-1 - ASC1 - Activating Signal Cointegrator-1 Gene - HsT17391 - MDCDC - SMABF1 - Thyroid Hormone Receptor Interactor 4 wt Allele - ZC2HC5 - Zinc Finger, C2HC5-Type Gene