| Primary Identifier | MGI:88269 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12349 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables carbonate dehydratase activity. Involved in positive regulation of dipeptide transmembrane transport and regulation of intracellular pH. Acts upstream of or within several processes, including carbon dioxide transport; positive regulation of GABAergic synaptic transmission; and positive regulation of cellular pH reduction. Located in cytosol and myelin sheath. Is expressed in several structures, including alimentary system; brain; heart; metanephros; and sensory organ. Used to study autosomal recessive osteopetrosis 3. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 3 and osteopetrosis. Orthologous to human CA2 (carbonic anhydrase 2). PHENOTYPE: Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
