Human HMGCL Recombinant Protein (RPPB1814)
- SKU:
- RPPB1814
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P35914
- Research Area:
- Enzymes
Description
| Product Name: | Human HMGCL Recombinant Protein |
| Product Code: | RPPB1814 |
| Size: | 10µg |
| Species: | Human |
| Target: | HMGCL |
| Synonyms: | 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase, 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase, 3-Hydroxy-3-Methylglutarate-CoA Lyase, Hydroxymethylglutaricaciduria, HMG-CoA Lyase, EC 4.1.3.4, HL, Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase, Hydroxymethylglutaryl-CoA Lyase, Mitochondrial,�3-Hydroxy-3-Methylglutaryl-CoA Lyase, Hydroxymethylglutaryl-CoA lyase, mitochondrial, HMG-CoA lyase, 3-hydroxy-3-methylglutarate-CoA lyase. |
| Source: | Sf9 Insect cells |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | HMGCL protein solution (1mg/ml) contains Phosphate Buffered Saline (pH 7.4), 20% 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: | MTLPKRVKIV EVGPRDGLQN EKNIVSTPVK IKLIDMLSEA GLSVIETTSF VSPKWVPQMG DHTEVLKGIQ KFPGINYPVL TPNLKGFEAA VAAGAKEVVI FGAASELFTK KNINCSIEES FQRFDAILKA AQSANISVRG YVSCALGCPY EGKISPAKVA EVTKKFYSMG CYEISLGDTI GVGTPGIMKD MLSAVMQEVP LAALAVHCHD TYGQALANTL MALQMGVSVV DSSVAGLGGC PYAQGASGNL ATEDLVYMLE GLGIHTGVNL QKLLEAGNFI CQALNRKTSS KVAQATCKLH HHHHH |
Hydroxymethylglutaryl-CoA lyase (HMGCL) is a mitochondrial matrix protein which is a member of the HMG-CoA lyase family. HMGCL is a homodimer and participates in leucine catabolism and ketogenesis, the hepatic synthesis of ketone bodies which, during fasting, provides a major source of energy for the heart, brain and kidney. More precisely, HMGCL catalyzes the final step of these processes, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.
HMGCL Human Recombinant produced in Sf9 Baculovirus cells is a single, glycosylated polypeptide chain containing 305 amino acids (28-325 a.a.) and having a molecular mass of 32.5kDa (Molecular size on SDS-PAGE will appear at approximately 28-40kDa). HMGCL is expressed with a 6 amino acid His tag at C-Terminus and purified by proprietary chromatographic techniques.
| UniProt Protein Function: | HMGCL: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Defects in HMGCL are the cause of 3-hydroxy-3- methylglutaryl-CoA lyase deficiency (HMGCLD); also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. Belongs to the HMG-CoA lyase family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Carbohydrate Metabolism - butanoate; Mitochondrial; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 4.1.3.4; Lyase; Lipid Metabolism - synthesis and degradation of ketone bodies Chromosomal Location of Human Ortholog: 1p36.1-p35 Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane; peroxisome Molecular Function:hydroxymethylglutaryl-CoA lyase activity; protein homodimerization activity; acyl-CoA binding; carboxylic acid binding; manganese ion binding; metal ion binding; magnesium ion binding; receptor binding Biological Process: response to starvation; mitochondrion organization and biogenesis; leucine catabolic process; acyl-CoA metabolic process; ketone body biosynthetic process; ketone body metabolic process; cellular lipid metabolic process; liver development; protein tetramerization; response to nutrient Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency |
| NCBI Summary: | The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
| UniProt Code: | P35914 |
| NCBI GenInfo Identifier: | 24418852 |
| NCBI Gene ID: | 3155 |
| NCBI Accession: | P35914.2 |
| UniProt Related Accession: | P35914 |
| Molecular Weight: | Observed: 34 kDaPredicted: 35 kDa |
| NCBI Full Name: | Hydroxymethylglutaryl-CoA lyase, mitochondrial |
| NCBI Synonym Full Names: | 3-hydroxy-3-methylglutaryl-CoA lyase |
| NCBI Official Symbol: | HMGCL�� |
| NCBI Official Synonym Symbols: | HL�� |
| NCBI Protein Information: | hydroxymethylglutaryl-CoA lyase, mitochondrial |
| UniProt Protein Name: | Hydroxymethylglutaryl-CoA lyase, mitochondrial |
| UniProt Synonym Protein Names: | 3-hydroxy-3-methylglutarate-CoA lyase |
| UniProt Gene Name: | HMGCL�� |
| UniProt Entry Name: | HMGCL_HUMAN |
