Full Product Name
HMGCL Polyclonal Antibody
Product Gene Name
anti-HMGCL antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human, Rat
Purity/Purification
Antigen Affinity Purification
Immunogen
Recombinant protein of human HMGCL
Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Santa Cruz Alternative
Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-101973 / sc-133661
Preparation and Storage
Store at -20 degree C. Avoid freeze/thaw cycles.
ISO Certification
Manufactured in an ISO 9001:2015 Certified Laboratory.
Other Notes
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.
Applications Tested/Suitable for anti-HMGCL antibody
Western Blot (WB), Immunohistochemistry (IHC)
Application Notes for anti-HMGCL antibody
WB: 1:500 - 1:2000
IHC: 1:50 - 1:200
Western Blot (WB) of anti-HMGCL antibody
Western blot analysis of extracts of various cells, using HMGCL antibody.
Immunohistochemistry (IHC) of anti-HMGCL antibody
Immunohistochemistry of paraffin-embedded rat kidney using HMGCL antibody at dilution of1:100 (x40 lens).
Immunohistochemistry (IHC) of anti-HMGCL antibody
Immunohistochemistry of paraffin-embedded human colon carcinoma using HMGCL antibody at dilution of1:100 (x40 lens).
NCBI/Uniprot data below describe general gene information for HMGCL. It may not necessarily be applicable to this product.
NCBI GenBank Nucleotide #
NM_000191.2
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UniProt Secondary Accession #
Q6IBC0; Q96FP8; B4DUP4; B7UCC6; D3Y5K7[Other Products]
UniProt Related Accession #
P35914[Other Products]
NCBI Official Full Name
hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1
NCBI Official Synonym Full Names
3-hydroxymethyl-3-methylglutaryl-CoA lyase
NCBI Official Symbol
HMGCL??[Similar Products]
NCBI Official Synonym Symbols
HL
??[Similar Products]
NCBI Protein Information
hydroxymethylglutaryl-CoA lyase, mitochondrial
UniProt Protein Name
Hydroxymethylglutaryl-CoA lyase, mitochondrial
UniProt Synonym Protein Names
3-hydroxy-3-methylglutarate-CoA lyase
UniProt Gene Name
HMGCL??[Similar Products]
UniProt Synonym Gene Names
HL; HMG-CoA lyase??[Similar Products]
UniProt Entry Name
HMGCL_HUMAN
NCBI Summary for HMGCL
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]
UniProt Comments for HMGCL
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: 1p36.1-p35
Cellular Component: mitochondrial matrix; mitochondrion; peroxisome
Molecular Function: hydroxymethylglutaryl-CoA lyase activity; magnesium ion binding; manganese ion binding; metal ion binding; protein homodimerization activity; receptor binding
Biological Process: ketone body biosynthetic process; leucine catabolic process; lipid metabolic process; protein tetramerization
Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency
Research Articles on HMGCL
1. The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly.
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