[10][11] The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias.

Achondrogenesis 1B (ACG-1B) is the most severe form of these chondrodysplasias, resulting in skeletal underdevelopment and death preceding or shortly after birth.

In contrast, mutations described in the mildest form of the chondrodysplasia, rMED, result in proteins that retain at least some partial sulfate transport function on both alleles.

This suggests that even a small amount of SLC26A2-mediated sulfate transport in chondrocytes can mitigate the clinical severity of the chondrodysplasia.

[8][19] Abundant SLC26A2 mRNA levels have been identified in the small and large intestine of mice, rats and humans.

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