3-hydroxymethyl-3-methylglutaryl-CoA lyase

Symbol

HMGCL (may also be known as: None)

Organism

Human

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]

Orthologs

SymbolSpecies
hmgcl Danio rerio
Hmgcl Mus musculus
Hmgcl Rattus norvegicus
LYS20 Saccharomyces cerevisiae

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3178 Gene expression of HMGCL decreases with age Molecular skin Human HMGCL —

GO Terms

GO IDGO TermGO Category
GO:0001889 liver development biological_process
GO:0006552 leucine catabolic process biological_process
GO:0006637 acyl-CoA metabolic process biological_process
GO:0007005 mitochondrion organization biological_process
GO:0007584 response to nutrient biological_process
GO:0009790 embryo development biological_process
GO:0042594 response to starvation biological_process
GO:0044255 cellular lipid metabolic process biological_process
GO:0044281 small molecule metabolic process biological_process
GO:0046950 cellular ketone body metabolic process biological_process
GO:0046951 ketone body biosynthetic process biological_process
GO:0070542 response to fatty acid biological_process
GO:0005739 mitochondrion cellular_component
GO:0005743 mitochondrial inner membrane cellular_component
GO:0005759 mitochondrial matrix cellular_component
GO:0005777 peroxisome cellular_component
GO:0000062 fatty-acyl-CoA binding molecular_function
GO:0000287 magnesium ion binding molecular_function
GO:0003824 catalytic activity molecular_function
GO:0004419 hydroxymethylglutaryl-CoA lyase activity molecular_function
GO:0016829 lyase activity molecular_function
GO:0030145 manganese ion binding molecular_function
GO:0031406 carboxylic acid binding molecular_function
GO:0042803 protein homodimerization activity molecular_function
GO:0046872 metal ion binding molecular_function