EXTL1
Description
The EXTL1 (exostosin like glycosyltransferase 1) is a protein-coding gene located on chromosome 1.
Exostosin-like 1 is a protein encoded by the EXTL1 gene in humans. It belongs to the multiple exostoses (EXT) family of glycosyltransferases, which are involved in the polymerization of heparan sulfate and heparin. EXTL1 possesses alpha 1,4- N-acetylglucosaminyltransferase activity and contributes to the elongation of heparan sulfate chains, potentially including heparin.
EXTL1 is a glycosyltransferase that plays a crucial role in the biosynthesis of heparan sulfate (HS). It specifically catalyzes the transfer of N-acetyl-alpha-D-glucosamine to the growing HS chain, demonstrating GlcNAcT-II activity. Interestingly, EXTL1 appears to lack GlcNAcT I and GlcAT-II activities.
EXTL1 is also known as EXTL.
Associated Diseases
- carcinoma of liver and intrahepatic biliary tract
- liver and intrahepatic bile duct neoplasm
- cancer
- hereditary multiple osteochondromas
