Anti-HEXA

HEXA(hexosaminidase A (alpha polypeptide) is an enzyme that in humans is encoded by the HEXA gene. Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines The HEXA gene encodes the alpha subunit of hexosaminidase A, a lysosomal enzyme involved in the breakdown of gangliosides. The HEXA gene is mapped on 15q23. Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze GM2 gangliosides. The alpha subunit contains a key residue, Arg-424, which is essential for binding the N-acetyl-neuramanic residue of GM2 gangliosides. Chimeric constructs were expressed in HeLa cells and selected constructs were produced in the baculovirus expression system to determine their ability to degrade GM2 ganglioside in the presence of GM2 activator protein. Their results allowed them to define 2 non contiguous sequence. Protein function: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. [The UniProt Consortium]