HL; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA lyase, mitochondrial

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

Polyclonal

IgG

Rabbit

The antibody is a rabbit polyclonal antibody raised against HMGCL. It has been selected for its ability to recognize HMGCL in immunohistochemical staining and western blotting.

Affinity Chromatography

Supplied as solution form in PBS, pH7.4, Containing 0.02% NaN3, 50% glycerol.

200ug/ml (lot specific)

Store at 4 degree C for frequent use. Stored at -20 degree C in a manual defrost freezer for one year without detectable loss of activity. Avoid repeated freeze-thaw cycles.

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customera??s specifications, please inquire.

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.

Western Blot (WB), Immunocytochemistry (ICC), Immunohistochemistry (IHC) Formalin/Paraffin, ELISA (EIA)

Western blotting: 1:50-400
Immunohistochemistry in formalin fixed frozen section: 1:50-500
Enzyme-linked Immunosorbent Assay: 1:100-1:5000

Western Blot: Sample: Recombinant protein.

DAB staining on fromalin fixed paraffin- embedded liver tissue)

20,222 Da

3-hydroxymethyl-3-methylglutaryl-CoA lyase

hydroxymethylglutaryl-CoA lyase, mitochondrial

Hydroxymethylglutaryl-CoA lyase, mitochondrial

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

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; EC 4.1.3.4; Lipid Metabolism - synthesis and degradation of ketone bodies; Lyase; Mitochondrial

Chromosomal Location of Human Ortholog: 1p36.11

Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion; peroxisome

Molecular Function: carboxylic acid binding; fatty-acyl-CoA binding; hydroxymethylglutaryl-CoA lyase activity; magnesium ion binding; manganese ion binding; metal ion binding; protein homodimerization activity; receptor binding

Biological Process: acyl-CoA metabolic process; ketone body biosynthetic process; leucine catabolic process; lipid metabolic process; liver development; mitochondrion organization; protein tetramerization; response to nutrient; response to starvation

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

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