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Component of the THO subcomplex of the TREX complex. Zusätzlich bieten wir Ihnen THOC6 Antikörper (45) und und viele weitere Produktgruppen zu diesem Protein an.
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Results indicate three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features.
In addition to confirming the morbid nature of THOC6 by providing an independent homozygous apparently loss of function allele in a patient with a compatible phenotype, our data also expand THOC6-related phenotype to include previously unreported imperforate anus and undescended testicles.
Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge between ALYREF/THOC4 and the THO complex (By similarity).
THO complex subunit 6 homolog
, WD repeat domain 58
, WD repeat-containing protein 58
, functional spliceosome-associated protein 35
, THO complex 6 homolog (Drosophila)
, THO complex subunit 6 homolog-like
, THO complex 6 L homeolog
, THO complex 6 homolog