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This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. The lamin family of proteins make up the matrix and are highly conserved in evolution. Function, proteins, disorders, pathways, orthologs, and expression.
Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, 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. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria
Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency.
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. Huntingtin is a disease gene linked to huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons 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.
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