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Hydroxymethylglutaryl-CoA lyase, mitochondrial (HMGCL) Recombinant Protein | HMGCL recombinant protein
Recombinant Human Hydroxymethylglutaryl-CoA lyase, mitochondrial (HMGCL)
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SDS-PAGE
NCBI and Uniprot Product Information
NCBI Description
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 Description
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.
Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 4.1.3.4; Mitochondrial; Lipid Metabolism - synthesis and degradation of ketone bodies; Carbohydrate Metabolism - butanoate; Lyase
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; metal ion binding; manganese ion binding; magnesium ion binding; receptor binding
Biological Process: response to starvation; mitochondrion organization and biogenesis; acyl-CoA metabolic process; leucine catabolic process; ketone body biosynthetic process; ketone body metabolic process; cellular lipid metabolic process; liver development; response to nutrient; protein tetramerization
Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency
Research Articles on HMGCL
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Product Notes
The HMGCL hmgcl (Catalog #AAA952595) is a Recombinant Protein produced from E Coli or Yeast or Baculovirus or Mammalian Cell and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 1-325aa; Full Length. The amino acid sequence is listed below: TLPKRVKIVE VGPRDGLQNE KNIVSTPVKI KLIDMLSEAG LSVIETTSFV SPKWVPQMGD HTEVLKGIQK FPGINYPVLT PNLKGFEAAV AAGAKEVVIF GAASELFTKK NINCSIEESF QRFDAILKAA QSANISVRGY VSCALGCPYE GKISPAKVAE VTKKFYSMGC YEISLGDTIG VGTPGIMKDM LSAVMQEVPL AALAVHCHDT YGQALANTLM ALQMGVSVVD SSVAGLGGCP YAQGASGNLA TEDLVYMLEG LGIHTGVNLQ KLLEAGNFIC QALNRKTSSK VAQATCKL. It is sometimes possible for the material contained within the vial of "Hydroxymethylglutaryl-CoA lyase, mitochondrial (HMGCL), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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