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.
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Human
Mouse, Rat
1:500-2000
IHC-P
Human, Mouse, Rat
1:100-500
IHC-F
Human, Mouse, Rat
1:100-500
IF
Human, Mouse, Rat
1:100-500
ELISA
Human, Mouse, Rat
1:5000-10000
交叉反应
交叉反应: Human (predicted: Mouse, Rat)
相关产品
暂无相关产品
靶标
基因名
AICDA
蛋白名
Single-stranded DNA cytosine deaminase
组织特异性
Strongly expressed in lymph nodes and tonsils.
疾病
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 to bacterial infections.
相似性
Belongs to the cytidine and deoxycytidylate deaminase family.
功能
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 responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.