Gene Symbol | AICDA |
Entrez Gene ID | 57379 |
Full Name | activation induced cytidine deaminase |
Synonyms | AID,ARP2,CDA2,HEL-S-284,HIGM2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency with hyper-IgM, type 2, 605258 (3) |