| Gene Symbol | HMGCL |
|---|---|
| Entrez Gene | 3155 |
| Alt Symbol | HL |
| Species | Human |
| Gene Type | protein-coding |
| Description | 3-hydroxymethyl-3-methylglutaryl-CoA lyase |
| Other Description | 3-hydroxy-3-methylglutarate-CoA lyase|3-hydroxy-3-methylglutaryl-CoA lyase|3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase|HMG-CoA lyase|hydroxymethylglutaricaciduria|hydroxymethylglutaryl-CoA lyase, mitochondrial|mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase |
| Swissprots | Q96FP8 B7UCC6 D3Y5K7 B4DUP4 P35914 Q6IBC0 |
| Accessions | AER36554 EAW95094 EAW95095 EAW95096 EAW95097 P35914 AI202943 AK122801 BAG53736 AK300733 BAG62406 AK309129 AK313869 BAG36597 BC010570 AAH10570 BC021145 BM981610 BT009792 AAP88794 CA306929 CR456884 CAG33165 DA425822 DQ892083 ABM83009 DQ895276 ABM86202 FJ472654 ACK58684 GU433941 ADD21697 L07033 AAA92733 NM_000191 NP_000182 NM_001166059 NP_001159531 |
| Function | Key enzyme in ketogenesis (ketone body formation). 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. {ECO:0000269|PubMed:22847177, ECO:0000269|PubMed:22865860, ECO:0000269|PubMed:8566388}. |
| Subcellular Location | Mitochondrion matrix. Peroxisome. Note=Unprocessed form is peroxisomal. |
| Tissue Specificity | Highest expression in liver. Expressed in pancreas, kidey, 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%). {ECO:0000269|PubMed:21952825}. |
| Top Pathways | Peroxisome, Synthesis and degradation of ketone bodies, Valine, leucine and isoleucine degradation, Butanoate metabolism |