Disease-gene associations mined from literature

Literature associating CA2 and autosomal dominant osteopetrosis 2

CA2 [ENSP00000285379]

Carbonic anhydrase 2; Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton- coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6. ECO:0000269|PubMed:10550681, ECO:0000269|PubMed:11831900,

Synonyms:  CA2,  CA2p,  hCA2,  E5RID5,  E5RK37 ...

Linkouts:  STRING  Pharos  UniProt  OMIM