Gene
cahz
- ID
- ZDB-GENE-980526-39
- Name
- carbonic anhydrase
- Symbol
- cahz Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Exhibits carbonate dehydratase activity. Involved in carbon dioxide transport and hypotonic salinity response. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 3 and osteopetrosis. Is expressed in several structures, including hematopoietic system; mesoderm; nervous system; pleuroperitoneal region; and presumptive blood. Orthologous to several human genes including CA2 (carbonic anhydrase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 34 figures from 17 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb588 (16 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Gilmour et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive osteopetrosis 3 | Alliance | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | 259730 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha carbonic anhydrase domain | Alpha carbonic anhydrase domain superfamily | Carbonic anhydrase, alpha-class | Carbonic anhydrase, alpha-class, conserved site |
|---|---|---|---|---|---|
|
UniProtKB:Q92051
|
260 |
Interactions and Pathways
No data available
Plasmids
No data available