| Primary Identifier | MGI:87916 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 11486 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 2'-deoxyadenosine deaminase activity; adenosine deaminase activity; and zinc ion binding activity. Involved in allantoin metabolic process; amide catabolic process; and nucleobase-containing small molecule metabolic process. Acts upstream of or within several processes, including negative regulation of lymphocyte apoptotic process; nucleobase-containing small molecule metabolic process; and positive regulation of lymphocyte activation. Located in cytoplasm. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and sensory organ. Used to study adenosine deaminase deficiency. Human ortholog(s) of this gene implicated in asthma; colon cancer; pleural tuberculosis; severe combined immunodeficiency (multiple); and uterine fibroid. Orthologous to human ADA (adenosine deaminase). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die perinatally with defective purine metabolism and severe liver cell degeneration, but lack thymic abnormalities. Replacement of placental ADA can rescue ADA-deficient fetuses, resulting in mice that are T and B-cell deficient, have elevated dATP levels, and immune deficiencies resembling human ADA 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
