SLC26A2
SLC26A2 or Solute carrier family 26 member 2 is a protein that in humans is encoded by the SLC26A2 gene. It is also known as diastrophic dysplasia sulfate transporter (DTDST). The SLC26A2 gene is part of the SLC26 family, which consists of anion transporters involved in sulfate transport and other anions across cell membranes.
Function[edit | edit source]
SLC26A2 is a sulfate transporter that is primarily found in the cartilage. It plays a crucial role in the formation of cartilage and bones by transporting sulfate ions into the cells. These ions are necessary for the sulfation of proteoglycans, which are major components of the extracellular matrix in cartilage.
Clinical significance[edit | edit source]
Mutations in the SLC26A2 gene can lead to several types of chondrodysplasia, a group of rare genetic disorders affecting the development of bones and cartilage. These include Diastrophic dysplasia, Atelosteogenesis type 2, and Achondrogenesis type 1B. These conditions are characterized by short stature, skeletal abnormalities, and problems with joint mobility.
See also[edit | edit source]
- Solute carrier family
- Chondrodysplasia
- Diastrophic dysplasia
- Atelosteogenesis type 2
- Achondrogenesis type 1B
References[edit | edit source]
External links[edit | edit source]
- SLC26A2 at the National Center for Biotechnology Information
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