A mutation in the gene of a glycolipid‐binding protein (GM2 activator) that causes GM2‐gangliosidosis variant AB

FEBS Letters

Schröder, Maria²  Sandhoff, Konrad²  Schnabel, Doris²  Suzuki, Kunihiko¹ 

[1] Brain and Development Research Center, University of North Carolina School of Medicine, Chapel Hill, NC 27599-7250, USA;Institut für Organische Chemie und Biochemie Bonn, D-5300 Bonn 1, Germany

关键词: GM2-gangliosidosis AB variant;    GM2 activator protein;    Mutation;    β-Hexosaminidase;    Ganglioside;    Glycolipid-binding protein;    β-hexosaminidase;    β-N-acetyl-D-hexosaminidase;    (EC 3.2.1.52);    PCR;    polymerase chain reaction;   

DOI  :  10.1016/0014-5793(91)81211-P

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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 T⁴¹² → 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 Cys¹⁰⁷ in the mature GM2 activator protein. The remainder of the coding sequence remained entirely normal.

【 授权许可】

Unknown