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 8.0.0) Enables cytidine deaminase activity. Involved in cytidine deamination and isotype switching. Acts upstream of or within cellular response to lipopolysaccharide and defense response to bacterium. 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 immune system; lower urogenital tract; lung; 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] |