GENETIC ENCYCLOPEDIA
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gene: CA5A

id763
symbolCA5A
organismHomo sapiens
full namecarbonic anhydrase 5A
summary Carbonic anhydrases (CAs) are a large 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. CA VA 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]
variant-disease

NM_001739.2(CA5A):c.645C>T (p.Phe215=) AND not provided

NM_001739.2(CA5A):c.267G>A (p.Ala89=) AND not provided

NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) AND not specified

NM_001739.2(CA5A):c.799T>C (p.Phe267Leu) AND not provided

NM_001739.2(CA5A):c.807A>T (p.Ala269=) AND not specified

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