Gene: CA1

Alternate names for this Gene: CA-I|CAB|Car1|HEL-S-11

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. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.2

Description of this Gene: carbonic anhydrase 1

Type of Gene: protein-coding

rs1532423 in CA1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1532423 in CA1 gene and Serum zinc measurement PMID 23720494 2013 Genome-wide association study identifies loci affecting blood copper, selenium and zinc.