| Background: | 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. |
| UniProt Protein Function: | Does not have a carbonic anhydrase catalytic activity.CautionAlthough it belongs to the alpha-carbonic anhydrase family, Arg-116 is present instead of the conserved His which is a zinc-binding residue. It is therefore expected that this protein lacks carbonic anhydrase activity. |
| NCBI Summary: | 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] |
| UniProt Code: | P35219 |
| NCBI GenInfo Identifier: | 461681 |
| NCBI Gene ID: | 767 |
| NCBI Accession: | P35219.3 |
| UniProt Secondary Accession: | P35219,Q32MY2, A8K0A5, B3KQZ7, |
| UniProt Related Accession: | P35219 |
| Molecular Weight: | 33 kDa |
| NCBI Full Name: | Carbonic anhydrase-related protein |
| NCBI Synonym Full Names: | carbonic anhydrase 8 |
| NCBI Official Symbol: | CA8 |
| NCBI Official Synonym Symbols: | CALS; CARP; CA-RP; CAMRQ3; CA-VIII |
| NCBI Protein Information: | carbonic anhydrase-related protein |
| UniProt Protein Name: | Carbonic anhydrase-related protein |
| UniProt Synonym Protein Names: | Carbonic anhydrase VIII; CA-VIII |
| Protein Family: | Carbonic anhydrase-related protein |
| UniProt Gene Name: | CA8 |
