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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - butanoate; EC; Lipid Metabolism - synthesis and degradation of ketone bodies; Lyase; Mitochondrial
Chromosomal Location of Human Ortholog: 4 D3|4 68.14 cM
Cellular Component:  mitochondrion; peroxisome
Molecular Function:  carboxylic acid binding; catalytic activity; fatty-acyl-CoA binding; hydroxymethylglutaryl-CoA lyase activity; lyase activity; magnesium ion binding; manganese ion binding; metal ion binding; protein homodimerization activity; receptor binding
Biological Process:  acyl-CoA metabolic process; ketone body biosynthetic process; leucine catabolic process; lipid metabolic process; mitochondrion organization; protein tetramerization
Reference #:  P38060 (UniProtKB)
Alt. Names/Synonyms: 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-Coenzyme A lyase; AW476067; HL; HMG-CoA lyase; Hmgcl; Hydroxymethylglutaryl-CoA lyase, mitochondrial; OTTMUSP00000010411
Gene Symbols: Hmgcl
Molecular weight: 34,239 Da
Basal Isoelectric point: 8.7  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene