rs2508483154
This variant is located in the CA5A gene.
▶ClinVar annotation
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
View on ClinVar →About CA5A
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]
View all CA5A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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