HMGCL Recombinant Rabbit Monoclonal Antibody [PSH20-82] (HA724177)

UNIPROT #

P35914

PROTEIN NAME

HMGCL

SYNONYMS

Hydroxymethylglutaryl-CoA lyase, mitochondrial;EC:4.1.3.4;HL; HMG-CoA lyase;3-hydroxy-3-methylglutarate-CoA lyase;HMGCL

SUBCELLULAR LOCATION

Mitochondrion matrix, Peroxisome.

FUNCTION

3-Hydroxy-3-methylglutaryl-CoA lyase (or HMG-CoA lyase) is an enzyme (EC 4.1.3.4 that in human is encoded by the HMGCL gene located on chromosome 1. It is a key enzyme in ketogenesis (ketone body formation). It is a ketogenic enzyme in the liver that catalyzes the formation of acetoacetate from HMG-CoA within the mitochondria. It also plays a prominent role in the catabolism of the amino acid leucine. The HMGCL protein plays an essential role in breaking down dietary proteins and fats for energy. It catalyzes the reaction: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate and requires a divalent metal ion as co-factor. The enzyme is required for ketogenesis in the liver, and is also responsible for processing the amino acid leucine inside the mitochondrion. Deficiency HMG-CoA lyase deficiency causes hypoketotic hypoglycemia similar to that is caused by HMGCS2 mutations but also leads to organic acid accumulation and metabolic acidosis due to altered leucine metabolism. This disorder can be mistaken for Reye syndrome because of the symptoms of vomiting, lethargy, and convulsions.