| Gene Symbol | CA8 |
|---|---|
| Full Name | Carbonic Anhydrase VIII |
| Chromosomal Location | 9q22 |
| NCBI Gene ID | 230 |
| OMIM | 114500 |
| Ensembl ID | ENSG00000168259 |
| UniProt ID | P35219 |
| Associated Diseases | Spinocerebellar Ataxia, Ataxia with Intellectual Disability |
CA8 (Carbonic Anhydrase VIII) encodes a member of the alpha-carbonic anhydrase family of zinc metalloenzymes. Unlike other carbonic anhydrases, CA8 appears to be catalytically inactive and functions primarily as a scaffold protein, interacting with other proteins involved in neuronal signaling and motor control.
CA8 is expressed primarily in the brain, with high expression in the cerebellum and Purkinje cells. The protein consists of a carbonic anhydrase-like domain but lacks enzymatic activity due to critical residue substitutions in the active site.
Key functions include:
Biallelic loss-of-function mutations in CA8 cause a form of autosomal recessive spinocerebellar ataxia. Clinical features include:
Last updated: 2026-03-08