Rabbit anti-Human HMGCL Polyclonal Antibody | anti-HMGCL antibody

HMGCL, NT (HMGCL, Hydroxymethylglutaryl-CoA lyase, mitochondrial, 3-hydroxy-3-methylglutarate-CoA lyase) (MaxLight 490)

Cat. Num. AAA6307314

• Gene Names: HMGCL; HL
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: HMGCL; Polyclonal Antibody; NT (HMGCL; Hydroxymethylglutaryl-CoA lyase; mitochondrial; 3-hydroxy-3-methylglutarate-CoA lyase) (MaxLight 490); 3-hydroxy-3-methylglutarate-CoA lyase; anti-HMGCL antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight490.

• Applicable Applications for anti-HMGCL antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: HMGCL antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 70-99 amino acids from the N-terminal region of human HMGCL.
• Conjugate: MaxLight490
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight490 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Related Product Information for anti-HMGCL antibody

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].

Product Categories/Family for anti-HMGCL antibody

Antibodies; Mitochondrial Proteins

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).

NCBI and Uniprot Product Information

• NCBI GI #: 62198232
• NCBI GeneID: 3155
• NCBI Accession #: NP_000182.2
• NCBI GenBank Nucleotide #: NM_000191.2
• UniProt Accession #: P35914; Q6IBC0; Q96FP8; B4DUP4; B7UCC6; D3Y5K7
• Molecular Weight: 20,222 Da
• 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
• NCBI Official Synonym Symbols: HL
• NCBI Protein Information: hydroxymethylglutaryl-CoA lyase, mitochondrial; 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HMG-CoA lyase; hydroxymethylglutaricaciduria; mitochondrial 3-hydroxy-3-methylg
• UniProt Protein Name: Hydroxymethylglutaryl-CoA lyase, mitochondrial
• UniProt Gene Name: HMGCL
• UniProt Synonym Gene Names: HL; HMG-CoA lyase
• UniProt Entry Name: HMGCL_HUMAN

NCBI Description

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 Description

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

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

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

Molecular Function: hydroxymethylglutaryl-CoA lyase activity; protein homodimerization activity; acyl-CoA binding; carboxylic acid binding; manganese ion binding; metal ion binding; magnesium ion binding; receptor binding

Biological Process: response to starvation; mitochondrion organization and biogenesis; leucine catabolic process; acyl-CoA metabolic process; ketone body biosynthetic process; ketone body metabolic process; cellular lipid metabolic process; liver development; protein tetramerization; response to nutrient

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