Defective SLC26A2 causes chondrodysplasias

Stable Identifier
R-HSA-3560792
Type
Pathway
Species
Homo sapiens
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The SLC26A1 and 2 genes encode sulfate transporter proteins that facilitate sulfate uptake into cells, critical in cartilage for sulfation of proteoglycans and extracellular matrix organization. Defects in SLC26A2 result in impaired SO4(2-) transport leading to insufficient sulfation of cartilage proteoglycans. Defective SLC26A2 is implicated in the pathogenesis of a spectrum of autosomal recessive human chondrodysplasias. Severity of symptoms range from mild (diastrophic dysplasia; MIM:222600), intermediate (atelosteogenesis type II; MIM256050) to severe (achondrogenesis type 1B; MIM:600972) (Superti-Furga et al. 1996, Dwyer et al. 2010, Dawson & Markovich 2005).

Literature References
PubMed ID Title Journal Year
21077202 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family

Dwyer, E, Hyland, J, Modaff, P, Pauli, RM

Am. J. Med. Genet. A 2010
15720248 Pathogenetics of the human SLC26 transporters

Dawson, PA, Markovich, D

Curr. Med. Chem. 2005
8723100 A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations

Superti-Furga, A, Rossi, A, Steinmann, B, Gitzelmann, R

Am. J. Med. Genet. 1996
Participants
Participant Of
Disease
Name Identifier Synonyms
diastrophic dysplasia 14687
achondrogenesis type IB 0080055 achondrogenesis Fraccaro type
atelosteogenesis 0050648
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