Document Detail

The biochemical genetics of the hexosaminidase system in man.
MedLine Citation:
PMID:  377957     Owner:  NLM     Status:  MEDLINE    
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.
E Beutler
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Publication Detail:
Type:  In Vitro; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  American journal of human genetics     Volume:  31     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1979 Mar 
Date Detail:
Created Date:  1979-09-01     Completed Date:  1979-09-01     Revised Date:  2010-09-02    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  95-105     Citation Subset:  IM    
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MeSH Terms
Enzyme Precursors / metabolism
Genetic Variation
Hexosaminidases / genetics*,  metabolism
Hybrid Cells / metabolism
Isoenzymes / genetics*,  metabolism
Protein Conformation
Sandhoff Disease / genetics
Tay-Sachs Disease / genetics
Reg. No./Substance:
0/Enzyme Precursors; 0/Isoenzymes; EC 3.2.1.-/Hexosaminidases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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