HMGCL Antibody

Code CSB-PA010563GA01HU
Product Type Purified Rabbit Anti human PolyClonal Antibody
Size US$685
Uniprot No. P35914
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunogen Human HMGCL
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Tested Applications ELISA,WB,IHC
Storage Buffer PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Purification Method Antigen Affinity purified
Isotype IgG
Alias 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase;HMGCL;HL ;
Immunogen Species Homo sapiens (Human)
Target Names HMGCL
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Target Details This protein 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.
HGNC 5005
RGD 620554
MGI 96158
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Function Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.
Involvement in disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)
Subcellular Location Mitochondrion matrix, Peroxisome
Protein Families HMG-CoA lyase family
Tissue Specificity Highest expression in liver. Expressed in pancreas, kidney, intestine, testis, fibroblasts and lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA level) is highest in heart (30%), skeletal muscle
Database Links

HGNC: 5005

OMIM: 246450

KEGG: hsa:3155

STRING: 9606.ENSP00000363614

UniGene: Hs.533444

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