HMGCL Antibody (N-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | P35914 |
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Clone Names | 90121165 |
Gene ID | 3155 |
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Other Names | Hydroxymethylglutaryl-CoA lyase, mitochondrial, HL, HMG-CoA lyase, 3-hydroxy-3-methylglutarate-CoA lyase, HMGCL |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
Name | HMGCL |
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Function | Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3- methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. 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. |
Cellular Location | Mitochondrion matrix {ECO:0000250|UniProtKB:P38060}. Peroxisome {ECO:0000250|UniProtKB:P38060}. Note=Unprocessed form is peroxisomal {ECO:0000250|UniProtKB:P38060} |
Tissue Location | 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 (22%), and brain (14%). |
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Provided below are standard protocols that you may find useful for product applications.
Background
The protein encoded by this gene belongs to the HMG-CoAlyase family. It is a mitochondrial enzyme that catalyzes the finalstep of leucine degradation and plays a key role in ketone bodyformation. Mutations in this gene are associated with HMG-CoA lyasedeficiency. Alternatively spliced transcript variants encodingdifferent isoforms have been found for this gene. [provided byRefSeq].
References
Fu, Z., et al. J. Biol. Chem. 285(34):26341-26349(2010)Pierron, S., et al. Arch Pediatr 17(1):10-13(2010)Menao, S., et al. Hum. Mutat. 30 (3), E520-E529 (2009) :Lin, W.D., et al. Clin. Chim. Acta 401 (1-2), 33-36 (2009) :Carrasco, P., et al. Mol. Genet. Metab. 91(2):120-127(2007)
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