GM2-gangliosidosis AB Variant

About the Disease
Gm2-Gangliosidosis, Ab Variant, also known as hexosaminidase activator deficiency, is related to leukodystrophy and sandhoff disease, and has symptoms including hyperacusis, seizures and abnormal pyramidal signs. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (Ganglioside GM2 Activator), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. Affiliated tissues include spinal cord, eye and brain, and related phenotypes are hyperreflexia and abnormal pyramidal sign

Common Targets
GM2A

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