HMGCL Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HMGCL |
| Official Name | 3-hydroxy-3-methylglutaryl-CoA lyase [Source:HGNC Symbol;Acc:HGNC:5005] |
| Ensembl ID | ENSG00000117305 |
| Bio databases IDs | |
| Aliases | 3-hydroxy-3-methylglutaryl-CoA lyase, hydroxymethylglutaricaciduria, hydroxymethylglutaryl-CoA lyase |
| Synonyms | 3-hydroxy-3-methylglutaryl-CoA lyase, 3-hydroxy-3-methylglutaryl-Coenzyme A lyase, HL, HMGCL1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HMGCL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- TIM-like beta/alpha barrel domains
- HMGL-like
- acyl-CoA binding
- metal ion binding
- enzyme
- hydroxymethylglutaryl-CoA lyase
- manganese ion binding
- structural molecule
- magnesium ion binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- HMG-CoA lyase deficiency
- deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase
- hereditary disorder
- hypoglycemia
- metastasis
- Alzheimer disease
- hepatocellular carcinoma
- experimentally-induced diabetes
regulates
- lipid
- ketone body
- leucine
- acyl-coenzyme A
role in cell
- migration
- abnormal morphology
- invasion by
- organization
- ketogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- mitochondrial fraction
- peroxisomal matrix
- Mitochondria
- cytosol
- mitochondrial matrix
- peroxisomes
- plasma
- peroxisomal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HMGCL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid metabolic process
- leucine catabolic process
- ketone body biosynthetic process
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- peroxisome
- mitochondrial matrix
- mitochondrion
- cytosol
- macromolecular complex
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- metal ion binding
- hydroxymethylglutaryl-CoA lyase activity
- structural molecule activity
- manganese ion binding