FEBS Lett. 1989 Jul 17;251(1-2):197-200.

Isolation of a cDNA encoding the human GM2 activator protein.

Schröder M, Klima H, Nakano T, Kwon H, Quintern LE, Gärtner S, Suzuki K, Sandhoff K.

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Institut für Organische Chemie und Biochemie, Bonn, FRG.

Abstract

The GM2 activator protein is a glycolipid-binding protein required for the lysosomal degradation of ganglioside GM2. A human fibroblast cDNA library was screened with mixtures of oligonucleotide probes corresponding to four different areas of the amino acid sequence. A putative clone (821 bp) which gave positive signals to all four probe mixtures was purified and sequenced. The sequence was colinear with the sequence of 160 amino acids of the mature GM2 activator protein. Availability of the cDNA clone should facilitate investigation into function of the GM2 activator protein and also into genetic abnormalities underlying GM2 gangliosidosis AB variant.

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A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. [FEBS Lett. 1991]
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.
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