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What is C5 gene?

What is C5 gene?

Complement component 5 is a protein that in humans is encoded by the C5 gene. Complement component 5 is involved in the complement system. It is cleaved into C5a and C5b: C5a plays an important role in chemotaxis. C5b forms the first part of the complement membrane attack complex.

What is C5 deficiency?

C5 complement deficiency (C5D, MIM# 120900) is a rare autosomal recessive inherited disease, associated with recurrent infections episodes, particularly meningitis and extragenital gonorrhea by Neisserial species, which are the most frequent micro-organisms isolated in these patients (Peter et al., 1981).

What is PRDM1 gene?

PRDM1 (PR/SET Domain 1) is a Protein Coding gene. Diseases associated with PRDM1 include B-Cell Lymphoma and Lymphoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding.

What is PR domain protein?

PR domain zinc finger protein 1, or B lymphocyte-induced maturation protein-1 (BLIMP-1), is a protein in humans encoded by the gene PRDM1 located on chromosome 6q21. BLIMP-1 is expressed in both B and T cells and plays a significant role in B cell development and antibody production.

How is C5 deficiency inherited?

Deficiencies of the individual terminal complement components C5, C6, C7, C8, and C9 are all inherited as autosomal recessive traits29 and lead to a deficiency of the membrane-attack complex and a lack of serum bactericidal activity.

What does C5 convertase do?

C5 convertase is an enzyme belonging to a family of serine proteases that play key role in the innate immunity. It participates in the complement system ending with cell death. There are four different C5 convertases able to specifically convert the protein C5 to C5a and C5b fragments.

What is a C5 blood test?

C5 level in mg/dL. Logistics. Test Indications: Useful for investigating an undetectable total complement (CH50) level. and investigating individuals with increased susceptibility to bacterial infection.

Is Blimp1 a transcription factor?

Blimp1 promoted plasmablast migration and adhesion. It repressed several transcription factor genes and Aicda, thus silencing B-cell-specific gene expression, antigen presentation and class switch recombination in plasmablasts.

What is Blimp1?

Blimp-1 is not only required for plasma cell formation and immunoglobulin secretion, it is also important for the maintenance of long-lived plasma cells (17, 21). In addition to regulating B cells, Blimp-1 has also been reported to regulate the homeostasis and function of regulatory T cells (Tregs).

What is the function of BMP4?

BMP4. Bone morphogenetic protein 4 (BMP4) is member of the transforming growth factor-beta superfamily. BMP4 inhibits POMC transcription and secretion.

What is the most common complement deficiency?

C2 deficiency is the most common complement deficiency, with frequency estimates between 1 in 10,000 to 1 in 20,000 for homozygous C2-deficient patients.

Is C3b a C5 convertase?

C5 convertase of the alternative C pathway is a complex enzyme consisting of three C fragments–one molecule of a major fragment of factor B (Bb) and two molecules of a major fragment of C3 (C3b).