Ext1 - exostosin glycosyltransferase 1 Gene

种属: Mus musculus

关于 Ext1

功能概要

Enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of or within with a positive effect on several processes, including glomerular visceral epithelial cell differentiation; heparin biosynthetic process; and nervous system development. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and leukocyte migration. Is integral component of endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and limb. Used to study autism spectrum disorder and hereditary multiple exostoses. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Orthologous to human EXT1 (exostosin Glycosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]