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Rabbit Anti-AICDA/FITC Conjugated antibody
background:
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 responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.
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 to bacterial infections.
Similarity:
Belongs to the cytidine and deoxycytidylate deaminase family.
Database links:
Entrez Gene: 57379 Human
Entrez Gene: 11628 Mouse
Omim: 605257 Human
SwissProt: Q9GZX7 Human
SwissProt: Q9WVE0 Mouse
Unigene: 149342 Human
Unigene: 391503 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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