Gene: CA2

Alternate names for this Gene: CA-II|CAC|CAII|Car2|HEL-76|HEL-S-282

Gene Summary: The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.2

Description of this Gene: carbonic anhydrase 2

Type of Gene: protein-coding

rs10504813 in CA2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs779869368 in CA2 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 PMID 8128957 1994 Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.