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SLC26A2: Wikis

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solute carrier family 26 (sulfate transporter), member 2
Identifiers
Symbol SLC26A2
Alt. symbols DTD
Entrez 1836
HUGO 10994
OMIM 606718
RefSeq NM_000112
UniProt P50443
Other data
Locus Chr. 5 q32-q33.1

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

Contents

Function

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

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

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1836.  
  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.  

External links

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

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