Human MCEE Recombinant Protein (RPPB1927)
- SKU:
- RPPB1927
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q96PE7
- Research Area:
- Enzymes
Description
| Product Name: | Human MCEE Recombinant Protein |
| Product Code: | RPPB1927 |
| Size: | 20µg |
| Species: | Human |
| Target: | MCEE |
| Synonyms: | GLOD2, Methylmalonyl CoA Epimerase, Glyoxalase Domain Containing 2, DL-methylmalonyl-CoA Racemase. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | The MCEE protein solution (1mg/1ml) is formulated in 20mM Tris-HCl buffer (pH8.0), 0.2M NaCl, 1mM DTT, 0.1mM PMSF and 10% glycerol. |
| 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% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MQVTGSVWNL GRLNHVAIAV PDLEKAAAFY KNILGAQVSE AVPLPEHGVS VVFVNLGNTK MELLHPLGRD SPIAGFLQKN KAGGMHHICI EVDNINAAVM DLKKKKIRSL SEEVKIGAHG KPVIFLHPKD CGGVLVELEQ A |
MCEE catalyzes the interconversion of D- and L-methylmalonyl-CoA throughout the degradation of branched chain amino acids, odd chain-length fatty acids, and other metabolites. MCEE protein deficiency is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria can appear in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
MCEE produced in E.Coli is a single, non-glycosylated polypeptide chain containing 161 amino acids (37-176a.a.) and having a molecular mass of 17.3kDa.MCEE is fused to a 21 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | MCEE: Defects in MCEE are a cause of methylmalonyl-CoA epimerase deficiency (MCEED); also known as methylmalonyl-CoA racemase deficiency or methylmalonic aciduria type 3. MCEE deficiency is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Belongs to the glyoxalase I family. |
| UniProt Protein Details: | Protein type:Mitochondrial; Carbohydrate Metabolism - propanoate; Isomerase; EC 5.1.99.1; Amino Acid Metabolism - valine, leucine and isoleucine degradation Chromosomal Location of Human Ortholog: 2p13.3 Cellular Component: mitochondrial matrix Molecular Function:metal ion binding; methylmalonyl-CoA epimerase activity Biological Process: L-methylmalonyl-CoA metabolic process; fatty acid beta-oxidation; short-chain fatty acid catabolic process; cellular lipid metabolic process Disease: Methylmalonyl-coa Epimerase Deficiency |
| NCBI Summary: | The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q96PE7 |
| NCBI GenInfo Identifier: | 188035928 |
| NCBI Gene ID: | 84693 |
| NCBI Accession: | NP_115990 |
| UniProt Related Accession: | Q96PE7 |
| Molecular Weight: | 19kDa |
| NCBI Full Name: | methylmalonyl-CoA epimerase, mitochondrial |
| NCBI Synonym Full Names: | methylmalonyl-CoA epimerase |
| NCBI Official Symbol: | MCEE�� |
| NCBI Official Synonym Symbols: | GLOD2�� |
| NCBI Protein Information: | methylmalonyl-CoA epimerase, mitochondrial |
| UniProt Protein Name: | Methylmalonyl-CoA epimerase, mitochondrial |
| UniProt Synonym Protein Names: | DL-methylmalonyl-CoA racemase |
| UniProt Gene Name: | MCEE�� |
| UniProt Entry Name: | MCEE_HUMAN |
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