Human 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase ELISA Kit | HMGCL elisa kit

Human Hydroxymethylglutaryl-CoA lyase, mitochondrial, HMGCL ELISA Kit

Cat. Num. AAA9333082

• Gene Names: HMGCL; HL
• Reactivity: Human
• Synonyms: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; Human Hydroxymethylglutaryl-CoA lyase; mitochondrial; HMGCL ELISA Kit; mitochondrial (HMGCL) ELISA kit; HL; 3-hydroxy-3-methylglutaryl CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; HMG-CoA lyase; hydroxymethylglutaricaciduria; HMGCL elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

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: 34,360 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; HMG-CoA lyase; hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
• 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; Lipid Metabolism - synthesis and degradation of ketone bodies; Mitochondrial; EC 4.1.3.4; Lyase; Amino Acid Metabolism - valine, leucine and isoleucine degradation

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

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

Molecular Function: protein homodimerization activity; hydroxymethylglutaryl-CoA lyase activity; acyl-CoA binding; carboxylic acid binding; metal ion binding; manganese 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; cellular lipid metabolic process; ketone body metabolic process; liver development; protein tetramerization; response to nutrient

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