Beta-hexosaminidase subunit alpha (HEXA)

Hexosaminidase (HEXA) catalyzes the degradation of the ganglioside GM2 and other molecules containing terminal N-acetyl hexosamines. Hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. The three isozymes are alpha/alpha, alpha/beta and beta/beta. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease.

Swiss-Prot Accession Number: P06865

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This analyte is not currently part of Myriad RBM's testing menu.