HEXA (NM_000520) Human Recombinant Protein

CAT#: TP303185

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Recombinant protein of human hexosaminidase A (alpha polypeptide) (HEXA)


Product Datasheet for 'TP303185'


  View other "HEXA" proteins (3)

USD 748.00


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Size
    • 20 ug


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Specifications

Product Data
Description Recombinant protein of human hexosaminidase A (alpha polypeptide) (HEXA)
Species Human
Expression Host HEK293T
Expression cDNA Clone or AA Sequence Recombinant protein was produced with TrueORF clone, RC203185. Click on the TrueORF clone link to view cDNA and protein sequences.
Tag C-Myc/DDK
Predicted MW 58.3 kDa
Concentration >50 ug/mL as determined by microplate BCA method
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Preparation Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
Reference Data
RefSeq NP_000511
Locus ID 3073
Refseq Size 2437
Cytogenetics 15q23
Refseq ORF 1587
Synonyms TSD
Summary 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]
Protein Families Druggable Genome
Protein Pathways Amino sugar and nucleotide sugar metabolism, Glycosaminoglycan degradation, Glycosphingolipid biosynthesis - ganglio series, Glycosphingolipid biosynthesis - globo series, Lysosome, Metabolic pathways, Other glycan degradation

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