DISEASES

Disease-gene associations mined from literature

Literature associating AICDA and B cell deficiency

AICDA [ENSP00000229335]

Single-stranded DNA cytosine deaminase; 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. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.

Synonyms:  AICDA,  A3QRX5,  AID,  Q546Y9,  Q5XM85 ...

Linkouts:  STRING  Pharos  UniProt  OMIM