SLC26A2

SLC26A2, also known as the diastrophic dysplasia sulfate transporter or DTDST, is a protein-coding gene. The protein encoded by this gene is an anion transporter that plays a crucial role in the transport of sulfate and other small anions across cell membranes. It is a member of the SLC26 family of transporters, which are involved in a variety of physiological processes.

Mutations in the SLC26A2 gene are associated with a group of skeletal disorders collectively known as the spondylocardiac dysplasias. These disorders are characterized by abnormalities in vertebral and cardiac development. Specifically, mutations in SLC26A2 are the cause of diastrophic dysplasia, a severe autosomal recessive form of chondrodysplasia. Other related conditions include atelosteogenesis types I and III, achondrogenesis type 1B, and Langer-Giedion syndrome, though the specific genotype-phenotype correlations can be complex.

The protein is expressed in various tissues, including cartilage, bone, and the inner ear, which aligns with the phenotypes observed in individuals with SLC26A2 mutations. The precise mechanisms by which impaired sulfate transport leads to these developmental defects are still under investigation but are thought to involve altered extracellular matrix formation and chondrocyte function. Research into SLC26A2 continues to shed light on skeletal development and the molecular basis of related genetic disorders.