Defective SLC26A2 does not cotransport extracellular SO4(2-), H+ to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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The SLC26A1 and 2 genes encode proteins that facilitate sulfate uptake into cells, though to be facilitated by cotransport with protons. SLC26A2 is ubiquitously expressed and encodes a sulfate transporter (Diastrophic dysplasia protein, DTD, DTDST) (Hastbacka et al. 1994). This transporter provides sulfate for proteoglycan sulfation which is needed for cartilage development. Defects in SLC26A2 result in impaired SO4(2-) transport leading to insufficient sulfation of cartilage proteoglycans. The severest form of achondrodysplasia, achondrogenesis type 1B (ACG-1B; MIM:600972), is caused by SLC26A2 mutations such as G255E, A585Vfs*6, L483P, R178X and N425D (Hastbacka et al. 1994, Karniski 2001, Superti-Furga et al. 1996).
Literature References
PubMed ID Title Journal Year
7923357 The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

Reeve-Daly, MP, Clines, G, Weaver, A, Mahtani, MM, Kusumi, K, Daly, M, Trivedi, B, Hamilton, BA, de la Chapelle, A

Cell 1994
8528239 Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Wilcox, WR, Superti-Furga, A, Cohn, DH, Lander, ES, Rimoin, DL, Rossi, A, van der Harten, HJ, Hästbacka, J, Steinmann, B, Blau, N, Gitzelmann, R

Nat. Genet. 1996
11448940 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype

Karniski, LP

Hum. Mol. Genet. 2001
Catalyst Activity

sulfate transmembrane transporter activity of SLC26A2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC26A2 mutants [plasma membrane]

Name Identifier Synonyms
achondrogenesis type IB DOID:0080055 achondrogenesis Fraccaro type
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