SLC26A2

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

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

Clinical significance
Deficiencies are associated with many forms of is_associated_with::osteochondrodysplasia. These include:
 * is_associated_with::achondrogenesis type 1B
 * is_associated_with::diastrophic dysplasia
 * is_associated_with::atelosteogenesis, type II
 * is_associated_with::recessive multiple epiphyseal dysplasia