B3GNT7
Description
The B3GNT7 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7) is a protein-coding gene located on chromosome 2.
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 is a protein in humans that is encoded by the B3GNT7 gene.
B3GNT7 encodes an N-acetyl glucosamine (GlcNAc) transferase that catalyzes the transfer of GlcNAc via a beta1->3 linkage from UDP-GlcNAc to the non-reducing terminal galactose (Gal) in the linearly growing chain of N- and O-linked keratan sulfate proteoglycans. It cooperates with B4GALT4 galactosyltransferase and CHST6 and CHST1 sulfotransferases to construct and elongate mono- and disulfated disaccharide units [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] and [->3(6-sulfoGalbeta)1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer (PubMed:14706853, PubMed:17690104). B3GNT7 is involved in the biosynthesis of N-linked keratan sulfate proteoglycans in the cornea, with an impact on proteoglycan fibril organization and corneal transparency (PubMed:17690104). B3GNT7 may play a role in the maintenance of tissue architecture by suppressing cellular motility and invasion (By similarity).
B3GNT7 is also known as beta3GnT7.
Associated Diseases
- X-linked endothelial corneal dystrophy
- Lisch epithelial corneal dystrophy
- X-linked corneal dermoid
- lattice corneal dystrophy type I
