Gene: CA5A

Alternate names for this Gene: CA5|CA5AD|CAV|CAVA|GS1-21A4.1

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.2

Description of this Gene: carbonic anhydrase 5A

Type of Gene: protein-coding

rs8056952 in CA5A gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs147623570 in CA5A gene and CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO PMID 24530203 2014 Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

rs149322277 in CA5A gene and Heart failure PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs149322277 in CA5A gene and Reduced ejection fraction PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs149322277 in CA5A gene and heart rate PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).