CA.1afa.5A

(redirected from Carbonic anhydrase VA)

CA.1afa.5A

A gene on chromosome 16p24.3 that encodes a carbonic anhydrase, a zinc metalloenzyme that catalyses the reversible hydration of carbon dioxide. Carbonic anhydrases participate in various biological processes, including respiration, calcification, maintaining acid-base balance and bone resorption, as well as producing aqueous humour, cerebrospinal fluid, saliva and gastric acid. Carbonic anhydrase 5A is localised in mitochondria, expressed primarily in the liver and may play an important role in ureagenesis and gluconeogenesis.
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Enzyme defects indicated by solid bars are numbered as follows: (1), branched-chain 2-ketoacid dehydrogenase complex deficiency (MSUD, maple syrup urine disease); (2), isovaleryl-CoA dehydrogenase deficiency (isovaleric acidemia); (3), isolated 3-methylcrotonyl-CoA carboxylase deficiency; (4), 3-methylcrotonyl-CoA carboxylase deficiency as part of a multiple carboxylase deficiency due to nutritional biotin deficiency or biotinidase deficiency or holocarboxylase synthetase deficiency or carbonic anhydrase VA deficiency or MT-ATP6 deficiency; (5), 3-methylglutaconyl-CoA hydratase deficiency; (6), 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency.

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