Collagen beta(1-O)galactosyltransferase 2 (COLGALT2)

Collagen beta(1-O)galactosyltransferase 2 (COLGALT2) is a protein-coding enzyme that catalyzes the transfer of beta-galactose to hydroxylysine residues of collagen, a crucial post-translational modification step involved in collagen biosynthesis and extracellular matrix organization[1][2][3][4][5][7]. The enzyme, also known as GLT25D2, is encoded by the COLGALT2 gene located on chromosome 1q25.3 and consists of 626 amino acids[2]. This modification is particularly significant for the proper assembly, secretion, and function of specialized collagens (e.g., type IV collagen), affecting tissue integrity, especially in the basement membrane and connective tissues. Mutations or dysregulation in COLGALT2 have been linked to disorders such as osteogenesis imperfecta, Bruck syndrome, osteoarthritis, and possibly other connective tissue diseases[1][2][4]. COLGALT2 is expressed in several tissues, with higher levels in the brain, muscle tissue, and gastrointestinal tract[2][5]. No direct interacting drugs or clinical biomarkers have been established, but its biological role makes it a candidate therapeutic and disease susceptibility target, particularly in disorders involving collagen structure and extracellular matrix regulation[2][4].

Other names

Procollagen galactosyltransferase 2GLT25D2C1orf17KIAA0584ColGalT 2Hydroxylysine galactosyltransferase 2Glycosyltransferase 25 family member 2Glycosyltransferase 25 domain containing 2