SLC26A2

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SLC26A2
Identifiers
AliasesSLC26A2, D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, solute carrier family 26 member 2
External IDsOMIM: 606718 MGI: 892977 HomoloGene: 73876 GeneCards: SLC26A2
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SLC26A2
Genomic location for SLC26A2
Band5q32Start149,960,737 bp[1]
End149,993,455 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000112

NM_007885

RefSeq (protein)

NP_000103

NP_031911

Location (UCSC)Chr 5: 149.96 – 149.99 MbChr 18: 61.19 – 61.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.[5]

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.[6]

Clinical significance[edit]

Deficiencies are associated with many forms of osteochondrodysplasia.[7] These include:

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000155850 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034320 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ "Entrez Gene: SLC26A2". 
  7. ^ 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.