AAH10570.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
NCBI Official Synonym Full Names
3-hydroxymethyl-3-methylglutaryl-CoA lyase
NCBI Official Synonym Symbols
NCBI Protein Information
hydroxymethylglutaryl-CoA lyase, mitochondrial
UniProt Protein Name
Hydroxymethylglutaryl-CoA lyase, mitochondrial
UniProt Synonym Protein Names
3-hydroxy-3-methylglutarate-CoA lyase
UniProt Synonym Gene Names
UniProt Entry Name
HMGCL_HUMAN
NCBI Summary for HMGCL
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 Comments for HMGCL
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; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; Lipid Metabolism - synthesis and degradation of ketone bodies; EC 4.1.3.4; Lyase
Chromosomal Location of Human Ortholog: 1p36.1-p35
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion; peroxisome
Molecular Function: acyl-CoA binding; carboxylic acid binding; hydroxymethylglutaryl-CoA lyase activity; magnesium ion binding; manganese ion binding; metal ion binding; protein homodimerization activity; receptor binding
Biological Process: acyl-CoA metabolic process; cellular lipid metabolic process; ketone body biosynthetic process; ketone body metabolic process; leucine catabolic process; liver development; mitochondrion organization and biogenesis; protein tetramerization; response to nutrient; response to starvation
Disease: 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency
Research Articles on HMGCL
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Pathways associated with HMGCL recombinant protein
Diseases associated with HMGCL recombinant protein
Organs/Tissues associated with HMGCL recombinant protein
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