Target intelligence / Profile preview

Beta-1,4-galactosyltransferase 7 (B4GALT7)

Target
B4GALT7
Molecular classification
Enzyme, Glycosyltransferase, Type II membrane protein
01

Overview

Beta-1,4-galactosyltransferase 7 (B4GALT7) is a member of the β-1,4-galactosyltransferase enzyme family responsible for the biosynthesis of the tetrasaccharide linkage region in proteoglycans, particularly in skin fibroblasts. As a type II membrane-bound glycoprotein localized to the cis-Golgi, B4GALT7 transfers galactose from UDP-galactose to specific substrates, catalyzing the critical first galactose addition in proteoglycan carbohydrate-protein linkages. The enzyme is required for the formation of structural proteoglycans in the extracellular matrix, and deficiency leads to multisystem connective tissue disorders including variants of Ehlers-Danlos syndrome and Larsen syndrome. B4GALT7 is essential in the genetics of glycosylation and extracellular matrix structure.

Other names
Beta4Gal-T7Galactosyltransferase IUDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase IXylosylprotein beta-1,4-galactosyltransferaseXGALT1XGPT1EDSP1EDSSLAEDSSPD1beta-1,4-GalTase 7Xylosylprotein 4-beta-galactosyltransferase
02

Biological functions

GlycosylationProteoglycan biosynthesisCarbohydrate metabolismExtracellular matrix organization
03

Disease associations

Spondylodysplastic Ehlers-Danlos syndrome (progeroid type)Larsen syndromeCongenital disorder of glycosylationLethal skeletal dysplasia
04

Safety considerations

Mutations lead to loss of function associated with severe connective tissue dysplasia and rare congenital disorders; not a direct drug target so safety concerns are tied to genetic disorders rather than drug therapy
05

Biomarkers

Mutational status (e.g., Arg270Cys) for diagnosis of Ehlers-Danlos syndrome, spondylodysplastic type

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