background:
HMGCS2 is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Function:
This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
High expression in liver and colon. Low expression in testis, heart, skeletal muscle and kidney.
DISEASE:
Defects in HMGCS2 are the cause of HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]; also known as deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2. Affected individuals present with severe hypoketotic hypoglycemia, mild hepatomegaly, or fatty liver, and a nondiagnostic pattern of urinary organic acids with increase of medium and short chain dicarboxylic acids.
Similarity:
Belongs to the HMG-CoA synthase family.
Database links:
UniProtKB/Swiss-Prot: P54868.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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