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

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