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3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL)

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HL; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA lyase, mitochondrial

3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL)
CCC D685
HGNC 5005
MGI 96158
PubMed 15308132
RGD 620554
UniProt P35914
3-Hydroxy-3-methylglutaryl coenzyme A lyase is a homodimeric mitochondrial matrix enzyme that catalyzes the cleavage of HMG-CoA to acetoacetic acid and acetyl-CoA, the last step of both ketogenesis and leucine catabolism. A shortage of glucose-sparing ketone bodies normally produced during fasting was thought to be responsible for the hypoglycemia which characterizes this metabolic defect. The absence of ketonuria in this disorder is a direct consequence of the metabolic lesion. HMG-CoA lyase is involved in ketogenesis, and the patient with the deficiency is compromised in the ability to generate ketone bodies. Both parents had reduced levels of HMG-CoA lyase in leukocytes. Clinically, deficiency of the enzyme results in metabolic acidosis and hypoglycemia.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD685Hu01 Recombinant 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD685Hu01 Polyclonal Antibody to 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) CLIA Kit Customized Service Offer
n/a ELISA Kit for 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD685Mu01 Recombinant 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD685Mu01 Polyclonal Antibody to 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) CLIA Kit Customized Service Offer
n/a ELISA Kit for 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) CLIA Kit Customized Service Offer
n/a ELISA Kit for 3-Hydroxymethyl-3-Methylglutaryl Coenzyme A Lyase (HMGCL) ELISA Kit Customized Service Offer
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  17. "Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria."J. Biol. Chem. 281:7526-7532(2006) [PubMed] [Europe PMC] [Abstract]
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  19. "HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q."Am. J. Hum. Genet. 62:295-300(1998) [PubMed] [Europe PMC] [Abstract]
  20. "Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient."Arch. Biochem. Biophys. 358:197-203(1998) [PubMed] [Europe PMC] [Abstract]
  21. "Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency."Hum. Genet. 107:320-326(2000) [PubMed] [Europe PMC] [Abstract]
  22. "Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase."J. Biol. Chem. 278:29016-29023(2003) [PubMed] [Europe PMC] [Abstract]
  23. "Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population."BMC Med. Genet. 7:86-86(2006) [PubMed] [Europe PMC] [Abstract]
  24. "A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase."J. Inherit. Metab. Dis. 29:64-70(2006) [PubMed] [Europe PMC] [Abstract]
  25. "C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity."Mol. Genet. Metab. 91:120-127(2007) [PubMed] [Europe PMC] [Abstract]
  26. "Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency."Clin. Chim. Acta 401:33-36(2009) [PubMed] [Europe PMC] [Abstract]
  27. "Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria." Hum. Mutat. 30:E520-E529(2009) [PubMed] [Europe PMC] [Abstract]