B4GALT2
Description
The B4GALT2 (beta-1,4-galactosyltransferase 2) is a protein-coding gene located on chromosome 1.
B4GALT2 is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes that encode type II membrane-bound glycoproteins with a specific preference for the donor substrate UDP-galactose. These enzymes transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT plays a distinct role in the biosynthesis of various glycoconjugates and saccharide structures. As type II membrane proteins, they possess an N-terminal hydrophobic signal sequence that directs them to the Golgi apparatus and remains uncleaved, acting as a transmembrane anchor. Based on sequence similarity, the beta4GalTs are grouped into four categories: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by B4GALT2 synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is influenced by alpha-lactalbumin but is not expressed in lactating mammary tissue. Two transcript variants encoding the same protein have been identified for this gene.
B4GALT2 is also known as B4Gal-T2, B4Gal-T3, beta4Gal-T2.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- Alzheimer disease
- multiple sclerosis
- schizophrenia
- autosomal recessive spastic paraplegia type 66
- cancer
