EXTL2

EXTL2 (Exostosin Like Glycosyltransferase 2) is a Protein Coding gene. Diseases associated with EXTL2 include Hereditary Multiple Osteochondromas. Among its related pathways are heparan sulfate biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and alpha-1,4-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is EXTL3.

Full Name

Exostosin Like Glycosyltransferase 2

Research Area

Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.

Biological Process

Heparan sulfate proteoglycan biosynthetic process Source: UniProtKB-UniPathway
N-acetylglucosamine metabolic process Source: UniProtKB
Protein glycosylation Source: InterPro
UDP-N-acetylgalactosamine metabolic process Source: UniProtKB

Cellular Location

Endoplasmic reticulum membrane
Processed exostosin-like 2: Secreted. A soluble form is found in the serum.

Topology

Cytoplasmic: 1-22
Helical: 23-43
Lumenal: 44-330

PTM

The soluble form derives from the membrane form by proteolytic processing.