Pathogenetics of the Human SLC26 Transporters

Author(s): P. A. Dawson, D. Markovich.

Journal Name: Current Medicinal Chemistry

Volume 12 , Issue 4 , 2005

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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.

Keywords: sulfate, transporter, chondrodysplasia, diarrhea, deafness

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Article Details

Year: 2005
Page: [385 - 396]
Pages: 12
DOI: 10.2174/0929867053363144
Price: $58

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