B4GALT5
Description
The B4GALT5 (beta-1,4-galactosyltransferase 5) is a protein-coding gene located on chromosome 20.
B4GALT5 is a human gene that encodes an enzyme belonging to the beta-1,4-galactosyltransferase (beta4GalT) family. This gene is one of seven beta4GalT genes that encode type II membrane-bound glycoproteins. These proteins have specificities for the donor substrate UDP-galactose and transfer galactose in a beta1,4 linkage to similar acceptor sugars. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. B4GALT5 has an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus, functioning as a transmembrane anchor. B4GALT5 is categorized within a group that includes beta4GalT6. The specific function of B4GALT5 is not fully understood. Previously known as B4GALT4, this gene was renamed to B4GALT5 and is also referred to as beta4GalT2 in the literature.
B4GALT5 catalyzes the synthesis of lactosylceramide (LacCer) by transferring galactose from UDP-galactose to glucosylceramide (GlcCer). LacCer is a crucial precursor for the biosynthesis of all gangliosides, membrane-bound glycosphingolipids essential for central nervous system (CNS) functions, including neuronal development, axon formation, and myelination. Additionally, B4GALT5 contributes to the glycosylation and stability of BMPR1A, a protein involved in bone morphogenetic protein signaling. Notably, B4GALT5 is crucial for extraembryonic development during early embryogenesis.
B4GALT5 is also known as B4Gal-T5, BETA4-GALT-IV, beta4Gal-T5, beta4GalT-V, gt-V.
Associated Diseases
- lysosomal storage disease
- major depressive disorder
- pentosuria
- multiple sclerosis
- cancer
- permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- COVID-19
