人类己糖胺酶系统的生化遗传学
The biochemical genetics of the hexosaminidase system in man.
作者信息
Beutler E
出版信息
Am J Hum Genet. 1979 Mar;31(2):95-105.
Abstract
Tay-Sachs disease and related GM2 ganglioside storage disorders result from the absence of one form of hexosaminidase, HEX A. The persistence of a second major hexosaminidase isozyme, HEX B, does not protect against the lethal accumulation of GM2 ganglioside in the central nervous system. Using immunologic and biochemical techniques, it has been demonstrated that the two major isozymes of hexosaminidase, HEX A and HEX B, share a common subunit, the structure of HEX A being designated (alpha beta)n and the structure of HEX B being designated as (beta2)n. The minor isozyme, HEX S, is an alpha chain homopolymer designated (alpha2)n, and HEX C seems unrelated to the HEX A, B, S system. The structures of other minor isozymes have not been totally resolved, but HEX I1, I2, and P (which may be identical to I2) appear to represent forms of HEX B.
摘要
泰-萨克斯病及相关的GM2神经节苷脂贮积症是由于缺乏一种形式的己糖胺酶HEX A所致。第二种主要的己糖胺酶同工酶HEX B的存在并不能防止GM2神经节苷脂在中枢神经系统中的致命性蓄积。运用免疫学和生物化学技术已证明，己糖胺酶的两种主要同工酶HEX A和HEX B共享一个共同亚基，HEX A的结构被指定为(αβ)n，HEX B的结构被指定为(β2)n。次要同工酶HEX S是一种α链同聚物，被指定为(α2)n，而HEX C似乎与HEX A、B、S系统无关。其他次要同工酶的结构尚未完全解析清楚，但HEX I1、I2和P（可能与I2相同）似乎代表HEX B的形式。
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本文引用的文献
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