免 疫 原：KLH conjugated synthetic peptide derived from human AICDA
抗原表位：101-198/198
SWISS：Q9GZX7
Gene ID ：57379
Human Gene ID：57379

RNA-editing deaminase involved in somatic hypermutation, gene conversion, and class-switch recombination. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses.
Tissue specificity:Strongly expressed in lymph nodes and tonsils.
Involvement in disease:Defects in AICDA are the cause of hyper-IgM immunodeficiency syndrome type 2 (HIGM2); also known as hyper-IgM syndrome 2. HIGM2 is an autosomal recessive disorder characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. HIGM2 causes the absence of Ig class switch recombination (CSR), the lack of Ig somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.
Function：Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody re
Tissue Specificity：Strongly expressed in lymph nodes and tonsils.
DISEASE：Defects in AICDA are the cause of immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]. 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
Similarity：Belongs to the cytidine and deoxycytidylate deaminase family.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.