| Primary Identifier | MGI:1342279 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 11628 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables cytidine deaminase activity. Acts upstream of or within cellular response to lipopolysaccharide; defense response to bacterium; and isotype switching. Predicted to be located in nucleoplasm. Predicted to be part of protein-containing complex. Predicted to be active in P-body and nucleus. Is expressed in several structures, including 4-8 cell stage conceptus; immune system; lower urogenital tract; reproductive system; and urethra epithelium. Used to study immunodeficiency with hyper-IgM type 2. Human ortholog(s) of this gene implicated in hyperimmunoglobulin syndrome and immunodeficiency with hyper-IgM type 2. Orthologous to human AICDA (activation induced cytidine deaminase). PHENOTYPE: Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching. [provided by MGI curators] |