| CA5A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CA5A, CA5, CA5AD, CAV, CAVA, GS1-21A4.1, carbonic anhydrase 5A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 114761 MGI: 101946 HomoloGene: 68200 GeneCards: CA5A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene.[5]
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].
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000174990 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025317 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Carbonic anhydrase 5A". Retrieved 2019-12-31.
Further reading
- Vullo D, Nishimori I, Innocenti A, Scozzafava A, Supuran CT (March 2007). "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. doi:10.1016/j.bmcl.2006.11.075. PMID 17174092.
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, et al. (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
- van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, et al. (March 2014). "Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood". American Journal of Human Genetics. 94 (3): 453–61. doi:10.1016/j.ajhg.2014.01.006. PMC 3951944. PMID 24530203.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.