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

Stable Identifier
R-HSA-3560789
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
8528239 Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

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

Nat. Genet. 1996
7923357 The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

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

Cell 1994
11448940 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype

Karniski, LP

Hum. Mol. Genet. 2001
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
sulfate transmembrane transporter activity of SLC26A2 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
achondrogenesis type IB 0080055 achondrogenesis Fraccaro type
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