NP_000511.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
19,326 Da
NCBI Official Full Name
hexosaminidase A preproprotein
NCBI Official Synonym Full Names
hexosaminidase subunit alpha
NCBI Official Synonym Symbols
NCBI Protein Information
beta-hexosaminidase subunit alpha
UniProt Protein Name
Beta-hexosaminidase subunit alpha
UniProt Synonym Protein Names
Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha
UniProt Synonym Gene Names
NCBI Summary for HEXA
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
UniProt Comments for HEXA
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.
Product References and Citations for anti-HEXA antibody
Cabezas. J.A. (1989) Biochem J 261 (3): 1059-1060; Lemieux. M.J., et al. (2006) J Mol Biol 359 (4): 913-929; Boles. D.J. and Proia. R.L. (1995) Am J Hum Genet 56 (3): 716-724
Research Articles on HEXA
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Products associated with anti-HEXA antibody
Pathways associated with anti-HEXA antibody
Diseases associated with anti-HEXA antibody
Organs/Tissues associated with anti-HEXA antibody
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