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Free keywords:
Disulfide bonds
Gm2 activator protein
Gm2 gangliosidosis ab variant, maldi-ms
Psd.
Amino-acid-sequences
Sulfatide activator
Gene
Expression
Ab.
Biochemistry & biophysics.
Abstract:
Lysosomal degradation of ganglioside GM2 by hexosaminidase A requires the presence of a small, non-enzymatic cofactor, the GM2-activator protein (GM2AP). Lack of functional protein leads to the AB variant of GM2-gangliosidosis, a fatal lysosomal storage