Hereditary multiple exostoses and heparan sulfate polymerization

被引：128

作者：

Zak, BM ^{[1
]}

Crawford, BE ^{[1
]}

Esko, JD ^{[1
]}

机构：

[1] Univ Calif San Diego, Glycobiol Res & Training Ctr, Dept Cellular & Mol Med, La Jolla, CA 92093 USA

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS | 2002年 / 1573卷 / 03期

关键词：

chondrocyte; chondrosarcoma; bone development; biosynthesis; EXT;

D O I：

10.1016/S0304-4165(02)00402-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide acceptors. EXT1 and EXT2 encode the copolymerase, whereas the roles of the other EXT family members (EXTL1, L2, and U) are less clearly defined. Here, we provide an overview of HME, the EXT family of proteins, and possible models for the relationship of altered HS biosynthesis to the ectopic bone growth characteristic of the disease. (C) 2002 Elsevier Science B.V. All rights reserved.

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收藏

页码：346 / 355

页数：10

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