Aliases for CA8 Gene
External Ids for CA8 Gene
Previous HGNC Symbols for CA8 Gene
Previous GeneCards Identifiers for CA8 Gene
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 this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
GeneCards Summary for CA8 Gene
CA8 (Carbonic Anhydrase 8) is a Protein Coding gene. Diseases associated with CA8 include Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3 and Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1. Among its related pathways are Nitrogen metabolism. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA7.
UniProtKB/Swiss-Prot for CA8 Gene
Does not have a carbonic anhydrase catalytic activity.