SLC26A2

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Solute carrier family 26 (sulfate transporter), member 2
Identifiers
Symbols SLC26A2 ; D5S1708; DTD; DTDST; EDM4; MST153; MSTP157
External IDs OMIM606718 MGI892977 HomoloGene73876 GeneCards: SLC26A2 Gene
Orthologs
Species Human Mouse
Entrez 1836 13521
Ensembl ENSG00000155850 ENSMUSG00000034320
UniProt P50443 Q62273
RefSeq (mRNA) NM_000112 NM_007885
RefSeq (protein) NP_000103 NP_031911
Location (UCSC) Chr 5:
149.34 – 149.37 Mb
Chr 18:
61.19 – 61.21 Mb
PubMed search [1] [2]

The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.[1]

Function[edit]

The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and extracellular matrix organization.[2]

Clinical significance[edit]

Deficiencies are associated with many forms of osteochondrodysplasia.[3] These include:

References[edit]

  1. ^ Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A (September 1994). "The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping". Cell 78 (6): 1073–87. doi:10.1016/0092-8674(94)90281-X. PMID 7923357. 
  2. ^ "Entrez Gene: SLC26A2". 
  3. ^ Forlino A, Piazza R, Tiveron C, et al (March 2005). "A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype". Hum. Mol. Genet. 14 (6): 859–71. doi:10.1093/hmg/ddi079. PMID 15703192. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.