ELK Biotechnology Hexb rabbit pAb

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Hexb rabbit pAb

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Background

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2 and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both subunits belong to family 20 of glycosyl hydrolases. Mutations in either subunit gene cause accumulation of GM2 ganglioside in neurons, leading to neurodegenerative disorders known as GM2 gangliosidoses. Mutations in the beta subunit gene cause Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been identified (RefSeq, May 2014).