Recombinant Human Hydroxymethylglutaryl-Coa Lyase, Mitochondrial (HMGCL) Protein (GST)

Name: Recombinant Human Hydroxymethylglutaryl-Coa Lyase, Mitochondrial (HMGCL) Protein (GST)
Brand: Beta LifeScience
SKU: BLC-09271P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Hydroxymethylglutaryl-Coa Lyase, Mitochondrial (HMGCL) Protein (GST) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P35914
Target Symbol	HMGCL
Synonyms	3 hydroxy 3 methylglutaryl CoA lyase; 3 hydroxy 3 methylglutaryl Coenzyme A lyase; 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase (hydroxymethylglutaricaciduria); 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase; 3-hydroxy-3-methylglutarate-CoA lyase; HL; HMG CoA lyase; HMG CoA Lyase Deficiency; HMG-CoA lyase; HMGCL; HMGCL_HUMAN; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl CoA lyase; Hydroxymethylglutaryl CoA lyase mitochondrial; Hydroxymethylglutaryl-CoA lyase; Mitochondrial 3 hydroxy 3 methylglutaryl CoA lyase; mitochondrial; MS725; OTTHUMP00000044830
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-GST
Target Protein Sequence	TLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL
Expression Range	1-325aa
Protein Length	Full Length
Mol. Weight	58.5kDa
Research Area	Signal Transduction
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.
Subcellular Location	Mitochondrion matrix. Peroxisome.
Protein Families	HMG-CoA lyase family
Database References	HGNC: 5005 OMIM: 246450 KEGG: hsa:3155 STRING: 9606.ENSP00000363614 UniGene: PMID: 28468827 The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly. PMID: 25708061 this is the first study describing HMGCL deficiency caused by uniparental disomy. PMID: 25872961 This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR enzyme activity, tracing potential alterations in cholesterol biosynthesis. PMID: 24333427 in the 2 stop codon mutations c.109G>T and c.504_505delCT studied, the stop codon does not appear to be the cause of aberrant splicing; the mutation c.504_505delCT causes 2 mRNA transcripts with a stop codon that generate two simultaneous nonsense-mediated mRNA decay phenomena PMID: 23465862 analysis of HMGCLL1 as an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL PMID: 22865860 An alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively, were detected. PMID: 21952825 levels of enzyme activity do not strongly correlate with formation of inter-subunit adducts by HMGCL mutants. C170S, C266S, and C323S proteins do not form inter-subunit disulfide adducts but such an adduct is restored in the C170S/C174S double mutant. PMID: 21514269 Crystal structures of ternary complexes of WT HMGCL with the competitive inhibitor 3-hydroxyglutaryl-CoA and of the catalytically deficient HMGCL R41M mutant with substrate HMG-CoA have been determined to 2.4 and 2.2 A. PMID: 20558737 We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene: c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg). PMID: 19932602 The peroxisomal enzyme forms a covalently linked dimeric species upon crosslinking with dibromopropanone or o-phenylenedimaleimide . Cysteine-323 is required for intersubunit covalent crosslinking. PMID: 12464283 A role is suggested for arginine-41 in deprotonation or enolization of acetyldithio-CoA, implicating this residue in the HMG-CoA cleavage reaction chemistry that leads to acetyl-CoA product formation. PMID: 15122894 Data describe the DNA mutational analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. PMID: 15164951 Exon 2 of HL skipping led to the loss of beta-sheet 1, and the skipping of exons 2 and 3 caused the disappearance of alpha helix 1 and beta-sheets 1 and 2 PMID: 15752612 Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase PMID: 16330550 findings of common mutations in HMGCL have direct implications on rapid molecular diagnosis, prenatal and pre-implantation diagnosis and population based prevention programs directed towards 3HMG in Saudi Arabia. PMID: 17173698 HMG-CoA located on the surface of the enzyme implicates Asn(311) and Lys(313) in substrate binding by establishing polar contacts with phosphate and ribose groups of adenosine, and Lys(48) by contacting the carboxyl group of the panthotenic acid moiety. PMID: 17459752 The unique HMGCL gene mutations exist in Taiwanese 3-hydroxy-3-methylglutaryl CoA lyase deficiency deficiency patients. PMID: 19036343 Finding that all identified missense mutations cause a >95% decrease in the enzyme activity, indicates that the disease appears only in very severe genotypes. PMID: 19177531

FAQs

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.

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Recombinant Human Hydroxymethylglutaryl-Coa Lyase, Mitochondrial (HMGCL) Protein (GST)

Recombinant Human Hydroxymethylglutaryl-Coa Lyase, Mitochondrial (HMGCL) Protein (GST)

Product Overview

Target Details

FAQs