The SLC26A2 gene provides instructions for making a protein that transports charged molecules (ions), particularly sulfate ions, across cell membranes. This protein appears to be active in many of the body’s tissues, including developing cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.
Cartilage cells use sulfate ions transported by the SLC26A2 protein to build molecules called proteoglycans. These molecules, which each consist of several sugars attached to a protein, help give cartilage its rubbery, gel-like structure. Because sulfate ions are required to make proteoglycans, the transport activity of the SLC26A2 protein is essential for normal cartilage formation.
Other Names
diastrophic dysplasia sulfate transporter; DTD; DTDST; EDM4; S26A2_HUMAN; solute carrier family 26 (anion exchanger), member 2; solute carrier family 26 (sulfate transporter), member 2; sulfate anion transporter 1; sulfate transporter
Related Genetics Topics
- Diastrophic dysplasia — MedlinePlus Genetics
- Multiple epiphyseal dysplasia — MedlinePlus Genetics
- Atelosteogenesis type 2 — MedlinePlus Genetics
- Achondrogenesis — MedlinePlus Genetics
Identifiers
- NCBI Gene: 1836
- OMIM: 606718
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
