Multiple epiphyseal dysplasia.
In J Am Acad Orthop Surg, Mar 2015
The autosomal recessive variant is caused by a mutation of the sulfate transporter gene SLC26A2.
Fibronectin matrix assembly is essential for cell condensation during chondrogenesis.
Princeton, United States. In J Cell Sci, 2014
Using mesenchymal stem cells (MSCs) in an in vitro chondrogenesis assay, we found that knockdown of the diastrophic dysplasia (DTD) sulfate transporter (DTDST, also known as SLC26A2), which is required for normal cartilage development, blocked cell condensation and caused a significant reduction in fibronectin matrix.
The SLC26 gene family of anion transporters and channels.
Boston, United States. In Mol Aspects Med, 2013
Mutations in three human SLC26 genes are associated with congenital or early onset Mendelian diseases: chondrodysplasias for SLC26A2, chloride diarrhea for SLC26A3, and deafness with enlargement of the vestibular aqueduct for SLC26A4.
Physiological roles and regulation of mammalian sulfate transporters.
Brisbane, Australia. In Physiol Rev, 2001
These include the renal sulfate transporters NaSi-1 and sat-1, the ubiquitously expressed diastrophic dysplasia sulfate transporter DTDST, the intestinal sulfate transporter DRA that is linked to congenital chloride diarrhea, and the erythrocyte anion exchanger AE1.