CA8 Gene - Carbonic Anhydrase 8
A comprehensive guide to CA8 gene, its function, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | CA8 |
|---|---|
| Full Name | carbonic anhydrase 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 767 ncbi.nlm.nih.gov/gene/767 |
| Ensembl ID | ENSG00000178538 |
| UniProt ID | P35219 |
| OMIM ID | 114815 |
| HGNC ID | 1382 |
| Aliases | CA-VIII, CALS, CARP |
Description
The CA8 gene encodes carbonic anhydrase 8, a member of the carbonic anhydrase family that lacks catalytic activity. It is involved in neuronal development and calcium signaling regulation. Mutations in CA8 are associated with cerebellar ataxia and mental retardation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) | Loss of function due to missense or nonsense mutations impairs CA8 protein function, leading to developmental defects in the cerebellum. | ClinVar, OMIM |
| Autosomal recessive cerebellar ataxia type 3 (ARCA3) | Homozygous mutations in CA8 disrupt calcium signaling and Purkinje cell survival. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 5.2 | Low |
| Testis | 3.8 | Low |
| Heart | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.3 | Neuronal model |
| U-87 MG (glioblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.484G>A (p.Gly162Arg) | Missense | Rare | Loss of function; associated with CAMRQ |
| c.431C>T (p.Pro144Leu) | Missense | Rare | Loss of function; associated with cerebellar ataxia |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein |
| c.697C>T (p.Arg233*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CA8 mutations are loss-of-function, leading to reduced or absent protein activity, causing cerebellar ataxia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity (GO:0004089) | • zinc ion binding (GO:0008270) |
| • protein binding (GO:0005515) | • brain development (GO:0007420) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Carbonic anhydrase-mediated CO2 hydration
• Calcium signaling (indirect)
Protein Summary
Carbonic anhydrase 8 (CA8) is a 290-amino acid protein that belongs to the alpha-carbonic anhydrase family but lacks catalytic activity due to a missing zinc-binding histidine. It is highly expressed in the cerebellum and plays a role in neuronal development and calcium homeostasis. Mutations cause autosomal recessive cerebellar ataxia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA8 Knockout HEK293 Cell Line | EDJ-KQ3502 | Human | 767 | Details Get a Quote |
| ABCA8 Knockout HEK293 Cell Line | EDJ-KQ7019 | Human | 10351 | Details Get a Quote |
| CA8 Knockout A-549 Cell Line | EDJ-KQ26629 | Human | 767 | Details Get a Quote |
| CA8 Knockout HCT 116 Cell Line | EDJ-KQ26630 | Human | 767 | Details Get a Quote |
| CA8 Knockout HeLa Cell Line | EDJ-KQ52767 | Human | 767 | Details Get a Quote |
| ABCA8 Knockout HeLa Cell Line | EDJ-KQ55390 | Human | 10351 | Details Get a Quote |
| ABCA8 Knockout A-549 Cell Line | EDJ-KQ63870 | Human | 10351 | Details Get a Quote |
| ABCA8 Knockout HCT 116 Cell Line | EDJ-KQ72328 | Human | 10351 | Details Get a Quote |
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