Hydroxymethylglutaryl-CoA lyase; mitochondrial; HL; HMG-CoA lyase; 3-hydroxy-3-methylglutarate-CoA lyase; HMGCL

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This HMGCL antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 71-99 amino acids from the N-terminal region of human HMGCL.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-HMGCL antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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].

Cancer; Metabolism; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

HMGCL Antibody (N-term) western blot analysis in K562 cell line lysates (35ug/lane).This demonstrates the HMGCL antibody detected the HMGCL protein (arrow).

34360

3-hydroxymethyl-3-methylglutaryl-CoA lyase

hydroxymethylglutaryl-CoA lyase, mitochondrial

Hydroxymethylglutaryl-CoA lyase, mitochondrial

HL; HMG-CoA lyase??[Similar Products]

HMGCL_HUMAN

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]

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; Carbohydrate Metabolism - butanoate; Lipid Metabolism - synthesis and degradation of ketone bodies; Mitochondrial; EC 4.1.3.4; 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; cellular lipid metabolic process; ketone body metabolic process; liver development; response to nutrient; protein tetramerization

Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency

Fu, Z., et al. J. Biol. Chem. 285(34):26341-26349(2010)
Pierron, S., et al. Arch Pediatr 17(1):10-13(2010)
Menao, S., et al. Hum. Mutat. 30 (3), E520-E529 (2009) :
Lin, W.D., et al. Clin. Chim. Acta 401 (1-2), 33-36 (2009) :
Carrasco, P., et al. Mol. Genet. Metab. 91(2):120-127(2007)

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