Human MMACHC Recombinant Protein (RPPB3981)
- SKU:
- RPPB3981
- Product type:
- Recombinant Protein
- Size:
- 20ug
- Species:
- Human
- Target:
- MMACHC
- Synonyms:
- Methylmalonic aciduria and homocystinuria type C protein
- MMACHC
- cblC
- RP11-291L193
- Source:
- Escherichia Coli
- Uniprot:
- Q9Y4U1
Description
| Product Name: | Human MMACHC Recombinant Protein |
| Product Code: | RPPB3981 |
| Size: | 20µg |
| Species: | Human |
| Target: | MMACHC |
| Synonyms: | Methylmalonic aciduria and homocystinuria type C protein, MMACHC, cblC, RP11-291L19.3. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | MMACHC protein solution (0.5mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 10% glycerol and 1mM DTT. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTP AMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGA AYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGF NFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRA RSWLSPRVSP PASPGP |
Though the exact role of MMACHC is unknown, its C-terminal region shows similarity to TonB, which is a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Therefore, it is suggested that MMACHC may have a role in the binding and intracellular trafficking of cobalamin. MMACHC mutations are linked with methylmalonic aciduria and homocystinuria type cblC. MMACHC is widely expressed, it is expressed at higher level in the fetal liver, however it is also expressed in the spleen, lymph node, thymus and bone marrow. MMACHC is weakly or not expressed in the peripheral blood leukocytes.
MMACHC Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 306 amino acids (1-282 a.a) and having a molecular mass of 34kDa.MMACHC is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Belongs to the MMACHC family. |
| UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis Chromosomal Location of Human Ortholog: 1p34.1 Cellular Component: cytoplasm; cytosol Molecular Function:cyanocobalamin reductase (cyanide-eliminating) activity; demethylase activity; glutathione binding; oxidoreductase activity; protein binding; protein homodimerization activity Biological Process: cobalamin biosynthetic process; cobalamin metabolic process; glutathione metabolic process Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type |
| NCBI Summary: | The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] |
| UniProt Code: | Q9Y4U1 |
| NCBI GenInfo Identifier: | 85681045 |
| NCBI Gene ID: | 25974 |
| NCBI Accession: | Q9Y4U1.3 |
| UniProt Secondary Accession: | Q9Y4U1,Q5T157, Q9BRQ7, |
| UniProt Related Accession: | Q9Y4U1 |
| Molecular Weight: | 32kDa |
| NCBI Full Name: | Methylmalonic aciduria and homocystinuria type C protein |
| NCBI Synonym Full Names: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
| NCBI Official Symbol: | MMACHC |
| NCBI Official Synonym Symbols: | cblC |
| NCBI Protein Information: | methylmalonic aciduria and homocystinuria type C protein |
| UniProt Protein Name: | Methylmalonic aciduria and homocystinuria type C protein |
| UniProt Synonym Protein Names: | CblC |
| Protein Family: | MMACHC-like protein |
| UniProt Gene Name: | MMACHC |
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