| Description : |
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). |
| Source : |
In Vitro Cell Free System |
| Species : |
Human |
| Form : |
Liquid |
| Molecular Mass : |
83.930kDa inclusive of tags |
| Protein Length : |
529 amino acids |
| AA Sequence : |
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLY PNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPR PYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTE IEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNV FHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSG SEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLG GDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNY MKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYVVEPL AFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVG FCEQEFEQT |
| Purity : |
Proprietary Purification |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles. |
| Storage Buffer : |
pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione. |
