AICDA ist ein Gen, das durch das Symbol AICDA kodiert wird. Andere Namen sind: Single-stranded DNA cytosine deaminase; Activation-induced cytidine deaminase; AID; Cytidine aminohydrolase. AICDA hat eine Masse von 23.95kDa, eine Aminosäurelänge von 198, und ist an Immunodeficiency with hyper-IgM 2 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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).
Gewebespezifität
Strongly expressed in lymph nodes and tonsils.
Rolle bei Krankheiten
Immunodeficiency with hyper-IgM 2: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.
Sequenzähnlichkeiten
Belongs to the cytidine and deoxycytidylate deaminase family.
Posttranslationale Modifikation
Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its class-switch recombination activity.
Zellort
Nucleus. Cytoplasm.
Predominantly cytoplasmic (PubMed:21385873). In the presence of MCM3AP/GANP, relocalizes to the nucleus (By similarity).
