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This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. Function, proteins, disorders, pathways, orthologs, and expression.

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Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, including 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. This gene encodes a protein that belongs to the serine protease family

Function, proteins, disorders, pathways, orthologs, and expression

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.