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Function, proteins, disorders, pathways, orthologs, and expression. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, including
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Complete information for col4a1 gene (protein coding), collagen type iv alpha 1 chain, including Huntingtin is a disease gene linked to huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (ajs)
Ajs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells.
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (tnf) superfamily This cytokine is mainly secreted by macrophages. The protein encoded by this gene is a major apoprotein of the chylomicron
