Carbonic anhydrase 5A, mitochondrial explained
Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene.[1]
Function
Carbonic anhydrases (CAs) are a family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA5A is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008].
Further reading
- Vullo D, Nishimori I, Innocenti A, Scozzafava A, Supuran CT . Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines . Bioorganic & Medicinal Chemistry Letters . 17 . 5 . 1336–40 . March 2007 . 17174092 . 10.1016/j.bmcl.2006.11.075 .
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ . 6 . Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression . PLOS ONE . 5 . 9 . e12862 . September 2010 . 20877624 . 2943476 . 10.1371/journal.pone.0012862 . 2010PLoSO...512862H . free .
- van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S . 6 . Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood . American Journal of Human Genetics . 94 . 3 . 453–61 . March 2014 . 24530203 . 3951944 . 10.1016/j.ajhg.2014.01.006 .
Notes and References
- Web site: Entrez Gene: Carbonic anhydrase 5A. 2019-12-31.
