Description
The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in CA8 (carbonic anhydrase 8) gene causes neuropathology, such as ataxia, mild mental retardation and the predisposition to quadrupedal gait. It is also associated with the development of colorectal and lung cancers. Additionally, it is upregulated in various cancers