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Hexosaminidase C, also known as NCOAT, is a bifunctional enzyme encoded by the MGEA5 gene. It possesses both hexosaminidase and histone acetyltransferase activities. Unlike the lysosomal hexosaminidases A and B, Hexosaminidase C has nuclear and cytoplasmic localization, a larger molecular weight, and distinct biochemical properties, including a different pH optimum and substrate specificity. It participates in the removal of terminal N-acetylglucosamine (GlcNAc) residues from glycoconjugates and histone acetylation, potentially influencing gene expression. Its separate genetic control suggests that mutations affecting this enzyme would likely manifest differently from those affecting the HEXA or HEXB genes, which are responsible for Tay-Sachs and Sandhoff diseases, respectively.
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