title: Pathogenetics of the human SLC26 transporters.
abstract: Over the past decade, 11 human genes belonging to the solute linked carrier (SLC) 26 family of transporters, have been identified. The SLC26 proteins, which include SAT-1, DTDST, DRA/CLD, pendrin, prestin, PAT-1/CFEX and Tat-1, are structurally related and have been shown to transport one or more of the following substrates: sulfate, chloride, bicarbonate, iodide, oxalate, formate, hydroxyl or fructose. Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia); (ii) SLC26A3 is associated with congenital chloride diarrhea; (iii) SLC26A4 is associated with Pendred syndrome and non-syndromic deafness, DFNB4; and (iv) SLC26A5 is defective in non-syndromic hearing impairment. This review article summarizes current information on the pathophysiological consequences of mutations in the human SLC26A2 to A5 genes.
authors.affiliation: School of Biomedical Sciences, Department of Physiology and Pharmacology, University of Queensland, Brisbane, Australia.
authors.forename: P A
authors.initials: PA
authors.lastname: Dawson
authors.forename: D
authors.initials: D
authors.lastname: Markovich
mesh_terms: D027321:Anion Transport Proteins; D002352:Carrier Proteins / Q000235:genetics; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D003967:Diarrhea / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters