Aliases for AICDA Gene
External Ids for AICDA Gene
Previous GeneCards Identifiers for AICDA Gene
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]
GeneCards Summary for AICDA Gene
AICDA (Activation Induced Cytidine Deaminase) is a Protein Coding gene. Diseases associated with AICDA include Immunodeficiency With Hyper-Igm, Type 2 and Hyperimmunoglobulin Syndrome. Among its related pathways are IL4-mediated signaling events and Primary immunodeficiency. GO annotations related to this gene include ubiquitin protein ligase binding and cytidine deaminase activity. An important paralog of this gene is APOBEC3G.
UniProtKB/Swiss-Prot for AICDA Gene
Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894).