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

Gene: CA3-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs573750741 in CA2;CA3-AS1 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 PMID 1301935 1992 A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.