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A mutation in the gene of a glycolipid‐binding protein (GM2 activator) that causes GM2‐gangliosidosis variant AB
Author(s) -
Schröder Maria,
Schnabel Doris,
Suzuki Kunihiko,
Sandhoff Konrad
Publication year - 1991
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(91)81211-p
Subject(s) - activator (genetics) , hexosaminidase , gangliosidosis , glycolipid , gene , biology , microbiology and biotechnology , chemistry , biochemistry , enzyme
GM2‐gangliosidoses are neurological disorders caused by a genetic deficiency of either the β‐hexosaminidase A or the GM2 activator, a glycolipid binding protein. In a patient with an immunologically proven GM2 activator protein deficiency, A T 412 → C transition (counted from A of the initiation codon) was found in the coding sequence, which results in the substitution of Arg for the normal Cys 107 in the mature GM2 activator protein. The remainder of the coding sequence remained entirely normal.