Carboxymethylenebutenolidase

Carboxymethylenebutenolidase (CMBL) is a enzyme that in humans is encoded by the CMBL gene. This enzyme is part of the metabolic process and plays a crucial role in the breakdown of certain amino acids and lipids in the body.

Function

Carboxymethylenebutenolidase is a hydrolase that is involved in the metabolism of pyrimidine. It catalyzes the conversion of 3-oxo-3-(2'-hydroxyethyl)-4-butenolide (OHBu), a toxic metabolite of pyrimidine, into 3-hydroxypropionic acid and acetyl-CoA. This enzyme is also known to have esterase activity, which means it can break down esters into an acid and an alcohol.

Structure

The CMBL gene is located on the short (p) arm of chromosome 5 at position 22.2. The gene spans approximately 10,000 base pairs and consists of 6 exons. The encoded protein is 32 kDa in size and is composed of 289 amino acids.

Clinical significance

Mutations in the CMBL gene have been associated with a variety of diseases, including cancer, diabetes, and cardiovascular disease. Further research is needed to fully understand the role of this enzyme in disease development and progression.

See also

• Metabolism
• Enzyme
• Gene
• Chromosome 5
• Hydrolase
• Pyrimidine
• Esterase