| 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]
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].
Carbonic anhydrase II, is one of sixteen forms of human α carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule. Loss of carbonic anhydrase activity in bones impairs the ability of osteoclasts to promote bone resorption, leading to osteopetrosis.
Carbonic anhydrase 3 is an enzyme that in humans is encoded by the CA3 gene.
Carbonic anhydrase 1 is an enzyme that in humans is encoded by the CA1 gene.
Carbonic anhydrase 4 is an enzyme that in humans is encoded by the CA4 gene.
Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.
Carbonic anhydrase 6 is an enzyme that in humans is encoded by the CA6 gene. It is also called 'gustin' because of its presence in saliva, and lower-than-normal levels of salivary zinc in individuals with hypogeusia.
Carbonic anhydrase-related protein 10 is an enzyme that in humans is encoded by the CA10 gene.
Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene. The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3) is caused by mutations in the CA8 gene.
Zinc finger protein 143 is a protein that in humans is encoded by the ZNF143 gene.
Carbonic anhydrase 14 is an enzyme that in humans is encoded by the CA14 gene.
Carbonic anhydrase 5B, mitochondrial is an enzyme that in humans is encoded by the CA5B gene.
39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.
Carbonic anhydrase 7 (CA7) is an enzyme that in humans is encoded by the CA7 gene.
Carbonic anhydrase-related protein 11 is a protein that in humans is encoded by the CA11 gene.
Early growth response protein 4 (EGR-4), also known as AT133, is a protein that in humans is encoded by the EGR4 gene.
Lipoic acid synthetase is a protein that in humans is encoded by the LIAS gene.
Glutamic--pyruvic transaminase 2 is a protein that in humans is encoded by the GPT2 gene.
PIF1 5'-to-3' DNA helicase is a protein that in humans is encoded by the PIF1 gene.
AlkB homolog 1, histone H2A dioxygenase is a protein that in humans is encoded by the ALKBH1 gene.
Carbonic anhydrase 13 is a protein that in humans is encoded by the CA13 gene.
 | This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
