HL; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA lyase, mitochondrial

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

E Coli

>95%

Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.
Stability Test: The thermal stability is described by the loss rate of the target protein. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. The loss of this protein is less than 5% within the expiration date under appropriate storage condition.

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 HMGCL recombinant protein 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.

SDS-PAGE, Western Blot (WB), ELISA (EIA), Immunoprecipitation (IP)

38.0kDa

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: Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; Lipid Metabolism - synthesis and degradation of ketone bodies; EC 4.1.3.4; Lyase

Chromosomal Location of Human Ortholog: 1p36.1-p35

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

Molecular Function: acyl-CoA binding; carboxylic acid 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; cellular lipid metabolic process; ketone body biosynthetic process; ketone body metabolic process; leucine catabolic process; liver development; mitochondrion organization and biogenesis; protein tetramerization; response to nutrient; response to starvation

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

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