The CA5A gene provides instructions for making an enzyme called carbonic anhydrase VA. This enzyme helps convert carbon dioxide to a substance called bicarbonate. Bicarbonate is necessary to maintain the proper acid-base balance in the body, which is necessary for most biological reactions to proceed properly.
The carbonic anhydrase VA enzyme is particularly important in the liver, where it provides bicarbonate needed by four enzymes in the energy-producing centers of cells (mitochondria): carbomoyl phosphate synthetase-1, pyruvate carboxylase, propionyl-CoA carboxylase, and 3-methylcrotonyl-CoA carboxylase. These enzymes help control the amount of certain other substances in the body. Carbomoyl phosphate synthetase-1 is involved in the urea cycle, which processes excess nitrogen and prevents it from accumulating as ammonia, a substance that is toxic to the brain. Pyruvate carboxylase is involved in the production of the simple sugar glucose (gluconeogenesis) in the liver. Propionyl-CoA carboxylase and 3-methylcrotonyl-CoA carboxylase help break down certain protein building blocks (amino acids).
Other Names
CA-VA; CA5; CA5AD; carbonate dehydratase VA; carbonic anhydrase 5A, mitochondrial precursor; carbonic anhydrase V, mitochondrial; carbonic anhydrase VA, mitochondrial; carbonic dehydratase; CAV; CAVA; GS1-21A4.1
Related Genetics Topics
Identifiers
- NCBI Gene: 763
- OMIM: 114761
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
