Function
Catalyzes the reversible hydration of carbon dioxide. Can also hydrate cyanamide to urea. Stimulates the chloride-bicarbonate exchange activity of SLC26A6.
Biological Context
Subcellular Location: Cytoplasm; Cell membrane
Disease Association: Osteopetrosis, autosomal recessive 3 (OPTB3) : A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with intellectual disability. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Carbonic anhydrase 2 (CA2) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 2-260aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 45.1kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
