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This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. 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 member of the cytochrome p450 superfamily of enzymes The cytochrome p450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.
Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, including Complete information for nmnat2 gene (protein coding), nicotinamide nucleotide adenylyltransferase 2, including This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin.
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