anti-HMGCL Antibody

Product name : anti-HMGCL Antibody

Catalog number : 29-623

Supplier : proscience

Price : 180 EUR

Size : 50 ug

More about:

Concept : Scope note: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

Discovery year : 1993-12-13

Entrez Gene : 3-hydroxymethyl-3-methylglutaryl-CoA lyase  (HMGCL)  (MIR509-3)

Entrez gene record : 3155

GenBank acession : BC010570

Gene : HMGCL

Gene ontology - Biological process : liver development lipid metabolic process protein tetramerization response to fatty acid response to nutrient mitochondrion organization response to starvation ketone body biosynthetic process leucine catabolic process acyl-CoA metabolic process

Gene ontology - Cellular component : mitochondrion mitochondrial matrix peroxisome mitochondrial inner membrane

Gene ontology - Molecular function : receptor binding protein homodimerization activity magnesium ion binding metal ion binding manganese ion binding fatty-acyl-CoA binding hydroxymethylglutaryl-CoA lyase activity carboxylic acid binding

Havana BLAST/BLAT : OTTHUMG00000002963

Identity : 5005

InterPro : Aldolase-type TIM barrel  (TIMELESS) Pyruvate carboxyltransferase Hydroxymethylglutaryl-CoA lyase, active site Hydroxymethylglutaryl-CoA lyase, mitochondrial

Kegg : Valine, leucine and isoleucine degradation - Homo sapiens (human) Butanoate metabolism - Homo sapiens (human) Peroxisome - Homo sapiens (human) Synthesis and degradation of ketone bodies - Homo sapiens (human)

Locus : 1p36.11

Long gene name : 3-hydroxymethyl-3-methylglutaryl-CoA lyase

Name : Blotting, Western

PubMed : Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) The peroxisomal enzyme forms a covalently linked dimeric species upon crosslinking with dibromopropanone or o-phenylenedimaleimide . Cysteine-323 is required for intersubunit covalent crosslinking. Data describe the DNA mutational analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase HMG-CoA located on the surface of the enzyme implicates Asn(311) and Lys(313) in substrate binding by establishing polar contacts with phosphate and ribose groups of adenosine, and Lys(48) by contacting the carboxyl group of the panthotenic acid moiety. Crystal structures of ternary complexes of WT HMGCL with the competitive inhibitor 3-hydroxyglutaryl-CoA and of the catalytically deficient HMGCL R41M mutant with substrate HMG-CoA have been determined to 2.4 and 2.2 A. An alternative transcript of HMGCS2 carrying a deletion of exon 4, and two alternative transcripts of HMGCL with deletions of exons 5 and 6, and exons 5, 6 and 7, respectively, were detected. in the 2 stop codon mutations c.109G>T and c.504_505delCT studied, the stop codon does not appear to be the cause of aberrant splicing; the mutation c.504_505delCT causes 2 mRNA transcripts with a stop codon that generate two simultaneous nonsense-mediated mRNA decay phenomena This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR enzyme activity, tracing potential alterations in cholesterol biosynthesis. Data suggest that HMGCS1 (HMG-CoA synthase 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon cancer cells. (BRAF = proto-oncogene protein B-raf)

Pubmed identfication : 8102917 8978493

Qualifiers : classification, economics, history, instrumentation, methods, standards, trends, utilization, veterinary, statistics & numerical data, ethics

RefSeq identity : NM_000191

Synonyms : HL

Synonyms gene name : 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase

Synonyms name : hydroxymethylglutaricaciduria

Tree numbers : E05.196.401.143 E05.301.300.096 E05.478.566.320.200 E05.601.262 E05.601.470.320.200

WikiPathWays : Amino Acid metabolism Synthesis and Degradation of Ketone Bodies