Last Update:2021-12-17

EXT2 encodes exostosin glycosyltransferase 2, which is involved in the biosynthesis of heparan sulfate and heparin. The main structure of heparan sulfate is a repeating disaccharide structure consisting of (GlcNAcα1,4GlcAβ1,4)n, where sulfate is added to positions 2, 3, and 6 of GlcNAc and position 2 of GlcA and IdoA. EXT1 and EXT2 are responsible for the stretching reaction of the repeating disaccharide structure. EXT2 is also the causative gene of hereditary multiple exostoses (HME).

Keyword: Hereditary multiple exostoses ,  heparan sulfate ,  heparin ,  proteoglycan

Glucuronyltransferase N-Acetylglucosaminyltransferase

GGDB Symbol EXT1    Alias
Designationheparan sulfate GlcA/GlcNAc transferase 1, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase 1
OrganismHomo sapiens
GeneID 2131
HGNC EXT1 (3512)
mRNA NM_000127
Protein NP_000118
CAZy GT64   
GlyCosmos Glycogenes EXT1
OMIM 608177
Disease name
Human Protein Atlas ENSG00000182197
Open ALL Close ALL

Orthologous Gene

Acceptor Substrates (Reference)

Acceptor Substrates (KEM-C)


RNA Expression from Human Protein Atlas
This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Expression (Reference)

Gene Ontology

This page does not indicate all of the enzymatic reaction, and expression of "EXT1".