SLC26A2 : solute carrier family 26 member 2

Description

The SLC26A2 (solute carrier family 26 member 2) is a protein-coding gene located on chromosome 5.

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.

The SLC26A2 protein facilitates the transport of sulfate ions into chondrocytes, ensuring adequate sulfation of proteoglycans, which are crucial for cartilage development. It also mediates electroneutral anion exchange of sulfate ions for oxalate ions and sulfate and oxalate ions for chloride ions. Additionally, the protein mediates the exchange of sulfate and oxalate ions for hydroxyl ions and chloride ions for bromide, iodide, and nitrate ions. The coupling of sulfate transport to both hydroxyl and chloride ions ensures efficient transport at different pH levels: sulfate-hydroxide exchange at acidic pH and sulfate-chloride exchange at alkaline pH. Furthermore, SLC26A2 is essential for chondrocyte proliferation, differentiation, and cell size expansion.

SLC26A2 is also known as D5S1708, DTD, DTDST, EDM4, MST153, MSTP157.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing