Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Diseases associated with map4k4 include anus, imperforate and renal dysplasia. Complete information for yap1 gene (protein coding), yes1 associated transcriptional regulator, including Function, proteins, disorders, pathways, orthologs, and expression. This gene encodes a protein that belongs to the serine protease family
Complete information for kdr gene (protein coding), kinase insert domain receptor, including Mutations in this gene cause gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. Complete information for col5a1 gene (protein coding), collagen type v alpha 1 chain, including
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