Species Human Entrez 1836 | Human Mouse Ensembl ENSG00000155850 | |
Aliases SLC26A2, D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, solute carrier family 26 member 2 External IDs OMIM: 606718 MGI: 892977 HomoloGene: 73876 GeneCards: SLC26A2 | ||
The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.
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.
Clinical significance
Deficiencies are associated with many forms of osteochondrodysplasia. These include:
References
SLC26A2 Wikipedia(Text) CC BY-SA