Zak Beverly M, Crawford Brett E, Esko Jeffrey D
Glycobiology Research and Training Center, Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla 92093-0687, USA.
Biochim Biophys Acta. 2002 Dec 19;1573(3):346-55. doi: 10.1016/s0304-4165(02)00402-6.
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 L3) 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.
遗传性多发性骨软骨瘤（HME，OMIM 133700，133701）是由EXT1和EXT2基因的突变引起的，这两个基因编码负责硫酸乙酰肝素（HS）生物合成的共聚酶。这个多基因家族的成员具有将N - 乙酰葡糖胺转移到多种寡糖受体上的能力。EXT1和EXT2编码共聚酶，而其他EXT家族成员（EXTL1、L2和L3）的作用则不太明确。在这里，我们概述了HME、EXT蛋白家族，以及HS生物合成改变与该疾病特征性异位骨生长之间关系的可能模型。
