Human GM2A Recombinant Protein (RPPB3611)
- SKU:
- RPPB3611
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P17900
Description
| Product Name: | Human GM2A Recombinant Protein |
| Product Code: | RPPB3611 |
| Size: | 10µg |
| Species: | Human |
| Target: | GM2A |
| Synonyms: | Ganglioside GM2 activator, Cerebroside sulfate activator protein, GM2-AP, Sphingolipid activator protein 3, SAP-3, GM2A. |
| Source: | Escherichia Coli |
| Physical Appearance: | Filtered White lyophilized (freeze-dried) powder. |
| Formulation: | GM2A filtered (0.4 �m) and lyophilized from 0.5mg/ml in 0.05M Tris buffer and 0.1M NaCl, pH-8.0. |
| Solubility: | It is recommended to add deionized water to prepare a working stock solution of approximately 0.5mg/ml and let the lyophilized pellet dissolve completely. GM2A is not sterile! Please filter the product by an appropriate sterile filter before using it in the cell culture. |
| Stability: | Store lyophilized protein at -20°C. Aliquot the product after reconstitution to avoid repeated freezing/thawing cycles. Reconstituted protein can be stored at 4°C for a limited period of time; it does not show any change after two weeks at 4°C. |
| Purity: | Greater than 95.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MKHHHHHHAS FSWDNCDEGK DPAVIRSLTL EPDPIIVPGN VTLSVMGSTS VPLSSPLKVD LVLEKEVAGL WIKIPCTDYI GSCTFEHFCD VLDMLIPTGE PCPEPLRTYG LPCHCPFKEG TYSLPKSEFV VPDLELPSWL TTGNYRIESV LSSSGKRLGC IKIAASLKGI |
Ganglioside GM2 activator (GM2A) is a small glycolipid transport protein which functions as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. GM2A participates in lipid metabolism. GM2A protein is localized in lysosomes. The GM2A protein forms a large binding pocket for a number of single chain phospholipids and fatty acids. GM2A demonstrates calcium-independent phospholipase activity. GM2A stimulates ganglioside GM2 degradation by presenting GM2 to beta-hexosaminidase A. The Beta-hexosaminidase A, along with GM2A, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. GM2A gene mutations result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease.
GM2A Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain (a.a 33-193) containing 170 amino acids including a 9 a.a N-terminal His tag. The total molecular mass is 18.7kDa (calculated).
| UniProt Protein Function: | GM2A: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity. Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. Defects in GM2A are the cause of GM2-gangliosidosis type AB (GM2GAB); also known as Tay-Sachs disease AB variant. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2GAB is characterized by GM2 gangliosides accumulation in the presence of both hexosaminidase A and B. |
| UniProt Protein Details: | Protein type:Activator; Mitochondrial Chromosomal Location of Human Ortholog: 5q33.1 Cellular Component: extracellular region; lysosomal lumen Molecular Function:sphingolipid activator protein activity Biological Process: glycosphingolipid metabolic process; neutrophil degranulation Disease: Gm2-gangliosidosis, Ab Variant |
| NCBI Summary: | This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] |
| UniProt Code: | P17900 |
| NCBI GenInfo Identifier: | 160331912 |
| NCBI Gene ID: | 2760 |
| NCBI Accession: | P17900.4 |
| UniProt Secondary Accession: | P17900,Q14426, Q14428, Q6LBL5, B2R699, D3DQH6, |
| UniProt Related Accession: | P17900 |
| Molecular Weight: | 21kDa |
| NCBI Full Name: | Ganglioside GM2 activator |
| NCBI Synonym Full Names: | GM2 ganglioside activator |
| NCBI Official Symbol: | GM2A�� |
| NCBI Official Synonym Symbols: | SAP-3; GM2-AP�� |
| NCBI Protein Information: | ganglioside GM2 activator |
| UniProt Protein Name: | Ganglioside GM2 activator |
| UniProt Synonym Protein Names: | Cerebroside sulfate activator protein; GM2-AP; Sphingolipid activator protein 3; SAP-3 |
| Protein Family: | Ganglioside GM2 activator |
| UniProt Gene Name: | GM2A�� |
