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Gangliosidosis (GM2, O-variant, type 2) is a fatal, progressive neurodegenerative lysosomal storage disease caused by a deficiency of β-hexosaminidase.
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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Chromosome | |
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General information
Gangliosidosis (GM2, O-variant, type 2) is a fatal, progressive neurodegenerative lysosomal storage disease caused by a deficiency of β-hexosaminidase. The enzyme is composed of a dimer of two subunits α and β encoded by genes HEXA and HEXB. GM2 gangliosidosis can be caused by defects in the genes HEXA (Tays–Sachs disease, B-variant; where only the isoform A is deficient), HEXB (Sandhoff disease, O-variant; where both isoforms are involved). Mutations within the variants of β-hexosaminidase allow a build-up of toxic substances in the nerve cells (mainly neurons). An autosomal recessive mutation in HEXB is observed in the poodle. A related mutation of this gene is found in the Shiba Inu.