Target intelligence / Profile preview

Activation-induced cytidine deaminase (AID)

Target
AID
Molecular classification
Enzyme, Cytidine deaminase, RNA-editing deaminase, member of the APOBEC family
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Overview

Activation-induced cytidine deaminase (AID) is a DNA/RNA-editing enzyme encoded by the *AICDA* gene and is the evolutionary founding member of the APOBEC protein family. It is responsible for cytidine-to-uracil deamination in single-stranded DNA, which is critical for somatic hypermutation and class switch recombination in B cells—processes that diversify antibody specificity and enable adaptive immunity. AID also influences epigenetic gene regulation by DNA demethylation and has a tightly regulated expression and activity to prevent mutagenesis and carcinogenesis. Mutations or dysregulation of AID cause clinical conditions such as Hyper-IgM Syndrome type 2 immunodeficiency and contribute to the development of lymphomas and possibly other malignancies. No approved drugs currently target AID directly; therapeutic interest focuses on its pathogenic overactivity in cancer and immunodeficiency.

Other names
AICDAHIGM2CDA2ARP2cytidine aminohydrolasesingle-stranded DNA cytosine deaminaseHEL-S-284epididymis secretory protein Li 284AID proteinAPOBEC memberintegrated into Burkitt's lymphoma cell line Ramos
02

Mechanism of action

Not applicable; currently, drugs targeting AID are not in established clinical use. Theoretical approaches could involve inhibition or modulation of its deaminase activity or regulation of its expression

03

Biological functions

Somatic hypermutationClass switch recombinationGene conversionDNA demethylationB-cell terminal differentiationRegulation of antibody responsesRemoval of polyreactive B cells from immune repertoireEpigenetic regulation
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Disease associations

Immunodeficiency (Hyper-IgM Syndrome type 2)Autoimmune diseaseLymphoma (lymphomagenesis)CancerDiabetesTriple nucleotide repeat diseases
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Safety considerations

High mutator potential with risk of off-target mutationsincreased mutation burdenchromosomal translocationsdisturbed genomic integrityoncogenesisOff-target activity leads to increased mutational load in non-Ig genes, raising concern for genetic instabilityTherapeutic modulation could impact immune function and increase risk of autoimmune disease or cancer
06

Biomarkers

AID expression (or AICDA mutation) is used as a biomarker for immunodeficiency (e.g., Hyper-IgM syndrome type 2)potentially as a biomarker for lymphoma development

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