SLC35A2 : solute carrier family 35 member A2

Description

The SLC35A2 (solute carrier family 35 member A2) is a protein-coding gene located on chromosome X.

The SLC35A2 gene provides instructions for making an enzyme called UDP-galactose translocator (UGT). This enzyme is involved in a process called glycosylation, where complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The UGT enzyme transfers a simple sugar called galactose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid. Two versions of the enzyme, known as UGT1 and UGT2, are produced from the SLC35A2 gene. These enzymes differ in only a few protein building blocks (amino acids) and can function together or separately in different areas of the cell.

SLC35A2 is responsible for transporting uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus. It acts as an antiporter, exchanging UDP-galactose for UMP. It can also exchange UDP-galactose for AMP and CMP, and transport other nucleotide sugars, including UDP-N-acetylgalactosamine (UDP-GalNAc). This transport is crucial for supplying UDP-galactose to galactosyltransferases within the Golgi apparatus, which are necessary for the synthesis of globotriaosylceramide/globoside (Gb3Cer) from lactosylceramide.

SLC35A2 is also known as CDG2M, CDGX, UDP-Gal-Tr, UGALT, UGAT, UGT, UGT1, UGT2, UGTL.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing