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2 Possible Causes for Mutation in the Solute Carrier Family 16 Member 1 Gene

  • Hereditary Chondrocalcinosis

    GS is mostly caused by loss of function mutations in the solute carrier family 12, member 3 ( SLC12A3 gene) which consists of 26 exons and is located on the long arm of 16[] […] th chromosome [ 1 ]; this gene encodes the thiazide-sensitive sodium-chloride cotransporter (NCCT), expressed in the distal convoluted tubule of the kidney [ 3 ].[]

  • Nesidioblastosis

    SLC16A1/MCT1 HNF4A, HNF1A UCP2 3-hydroxyacyl- CoA dehydrogenase Solute carrier family 16 member 1/ monocarboxylate transporter 1 hepatocyte nuclear factors 4α and 1α mitochondrial[] Summary of mutated genes involved in FHI development and responsiveness to diazoxide treatment depending on the mutated gene Gene HADH1 SLC16A1 HNF4A, HNF1A UCP2 Protein SCHAD[]

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