SLC26A2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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".
  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

External links

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




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