A bifunctional glycosyltransferase involved in transferring GLUCURONIC ACID and N-ACETYLGLUCOSAMINE in the elongation of HEPARAN SULFATE chains. Mutations in the gene EXT2, coding for this protein (as well as mutations in other genes), are responsible for defects in heparan sulfate synthesis resulting in chromosome 11-linked HEREDITARY MULTIPLE EXOSTOSES. Exostosin 2, along with EXOSTOSIN 1, is a component of heparan sulfate polymerase.

DUI

D000099065 MeSH Prohlížeč

CUI

M0265859

Historická pozn.

2025 (1996)

Veřejná pozn.

2025; EXOSTOSIN-2 was indexed under N-ACETYLGLUCOSAMINYLTRANSFERASES 1996-2024