GeneID: 68
Names
| Common Name: | AICDA | Type: | Gene |
|---|---|---|---|
| Chromosome: | 12 (NC_000012.12) | Locus: | NG_011588.1 (AICDA) |
| HUGO Symbol: | AICDA | Full Name: | activation-induced cytidine deaminase |
| Exons: | 5 | Introns: | 4 |
Description:
The encoded protein belongs to the cytidine deaminase family. Members of this family function as polynucleotide DNA and RNA sequence editors that catalyse the deamination of cytidine to uridine. AICD plays an important role in immunoglobulin (Ig) diversification during B-cell development and is required for the somatic hypermutation and class switch recombination of the variable regions of Ig genes. It functions to shape the immune response against a wide array of varied pathogenic challenges. Mutations in this gene are associated with autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). Polymorphisms in this gene associated with HbF levels in patients with HbE/β0-thalassemia.
Synonyms: AID , ARP2 , CDA2 , HIGM2
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Hamilton CE, Papavasiliou FN, Rosenberg BR, Diverse functions for DNA and RNA editing in the immune system., RNA Biol , 7(2), 220-8, 2010
- Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010