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This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. 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
Function, proteins, disorders, pathways, orthologs, and expression. Huntingtin is a disease gene linked to huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons Lrrk2 (leucine rich repeat kinase 2) is a protein coding gene
Diseases associated with lrrk2 include parkinson disease 8, autosomal dominant and parkinson's disease.
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 encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides.
Complete information for col4a1 gene (protein coding), collagen type iv alpha 1 chain, including
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