HL

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

Polyclonal

IgG

Rabbit

Affinity Purification

1mg/ml (lot specific)

Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles.
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

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.

Polyclonal

Western Blot (WB), Immunohistochemistry (IHC)

WB: 1:200-1:2000
IHC: 1:50-1:200

Western blot analysis of extracts of K-562 cells, using HMGCL antibody.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.

325

3-hydroxymethyl-3-methylglutaryl-CoA lyase

hydroxymethylglutaryl-CoA lyase, mitochondrial; HMG-CoA lyase; hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase

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: 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

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