UDP-N-乙酰-α-D-半乳糖氨基转移酶3:一个新的磷调节蛋白的调磷机制  

UDP-N-acetyl-α-D-galactosamine-polypeptide:polypeptide N-acetylgalactosaminyltransferase-3 (ppGalNacT3):A novel member in phosphorous regulation

作　　者：李楠[1,2] 李春霖[2] 夏维波[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室,北京100730 [2]解放军总医院老年内分泌科,北京100853

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2012年第3期219-224,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

摘　　要：UDP-N-乙酰-α-D-半乳糖氨基转移酶3(ppGalNacT3)是催化成纤维细胞生长因子23(FGF23)O-糖基化的起始酶,其编码基因GALNT3的突变可以导致以高磷酸盐血症及软组织钙化为特征的高磷酸盐血症型家族性肿瘤样钙化(HFTC)。磷是人体重要的矿物质,参与包括骨骼矿化在内的许多重要生理过程,磷代谢紊乱可以导致骨骼矿化障碍,引起骨软化、骨质疏松等代谢性骨病的发生。磷稳态的调节对骨骼健康有非常重要作用。本文就一个新近发现的磷调节相关蛋白ppGalNacT3的结构和功能进行综述,并试阐述其调节血磷的机制以及对骨骼矿化的影响。ppGalNacT3, which is involved in the initiation of O-glycosylation, is important for preventing cleavage of FGF23 into biologically inactive fragments. Mutations of GALNT3 gene, which encodes ppGalNacT3, can cause HFTC-a rare metabolic bone disease associated with hyperphosphatemia and massive ectopic calcifications. Phosphorous plays an important role in bone mineralization and other physiological processes. And breaking phosphorous homeostasis may induce osteomalacia and osteoporosis. The recent updates about the structure and the phosphorous-regulating function of ppGalNacT3 protein were reviewed.

关 键 词：UDP-N-乙酰-α-D-半乳糖氨基转移酶3 O-糖基化 成纤维细胞生长因子23 磷稳态 骨骼矿化 

分 类 号：R681[医药卫生—骨科学]