background:
Hydroxymethylglutaryl-CoA lyase (HMGCL) is found in fibroblasts, liver and lymphoblasts. It has a role in ketogenesis and leucine catabolism. Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (hydroxymethylglutaricaciduria), an autosomal recessive disease which can lead to hypoglycemia and coma.
Function:
Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism.
Subunit:
Homodimer; disulfide-linked. Can also form homotetramers.
Subcellular Location:
Mitochondrion matrix.
Tissue Specificity:
Fibroblasts, liver and lymphoblasts.
DISEASE:
Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]; also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.
Similarity:
Belongs to the HMG-CoA lyase family.
Database links:
UniProtKB/Swiss-Prot: P35914.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
