GAL3ST4
Description
The GAL3ST4 (galactose-3-O-sulfotransferase 4) is a protein-coding gene located on chromosome 7.
The human GAL3ST4 gene encodes Galactose-3-O-sulfotransferase 4, an enzyme belonging to the galactose-3-O-sulfotransferase protein family. This enzyme is responsible for catalyzing the transfer of a sulfate group to the C-3' position of galactose residues found in O-linked glycoproteins. It exhibits high specificity for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc, and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc serving as effective substrates.
Mutations in GAL3ST4 have been linked to Pectus Excavatum, a common chest wall deformity. A 2012 study by Wu et al. proposed that a dominant inheritance pattern underlies this condition, with a mutation (g.chr7: 99764688G>A) affecting the first exon of GAL3ST4. This mutation results in the substitution of tryptophan for arginine at residue 11 of the encoded protein, likely disrupting the normal function of the enzyme.
GAL3ST4 is also known as GAL3ST-4.
