| Description : |
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. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
60.7 kDa |
| AA Sequence : |
MTSSRLWFSLLLAAAFAGRATALWP WPQNFQTSDQRYVLYPNNFQFQYDV SSAAQPGCSVLDEAFQRYRDLLFGS GSWPRPYLTGKRHTLEKNVLVVSVV TPGCNQLPTLESVENYTLTINDDQC LLLSETVWGALRGLETFSQLVWKSA EGTFFINKTEIEDFPRFPHRGLLLD TSRHYLPLSSILDTLDVMAYNKLNV FHWHLVDDPSFPYESFTFPELMRKG SYNPVTHIYTAQDVKEVIEYARLRG IRVLAEFDTPGHTLSWGPGIPGLLT PCYSGSEPSGTFGPVNPSLNNTYEF MSTFFLEVSSVFPDFYLHLGGDEVD FTCWKSNPEIQDFMRKKGFGEDFKQ LESFYIQTLLDIVSSYGKGYVVWQE VFDNKVKIQPDTIIQVWREDIPVNY MKELELVTKAGFRALLSAPWYLNRI SYGPDWKDFYVVEPLAFEGTPEQKA LVIGGEACMWGEYVDNTNLVPRLWP RAGAVAERLWSNKLTSDLTFAYERL SHFRCELLRRGVQAQPLNVGFCEQE FEQTTRTRPLEQKLISEEDLAANDI LDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
