The Gene Information Page is a comprehensive resource, gathering crucial information from various sources such as ClinVar, ClinGen, DECIPHER, and gnomAD.
A single gene search combined with a disease, phenotype, therapy, or category keyword leads you to the gene page, where you can find detailed information including gene-disease relationships, variant type and pathogenicity breakdown visual, and gene summary information.
Today, we are excited to introduce you to the C3 gene - a unique gene that, when deficient, could lead to immunocompromise or increased vulnerability to bacterial infections. Its role in the body's immune response is pivotal, making it a fascinating gene to explore.
The C3 gene provides instructions for creating a protein that plays a key role in the body’s immune response, known as the complement system. The activation of the complement system relies on the crucial role played by the complement component C3. Both the classical and alternative pathways require its activation. The preproprotein that encodes it undergoes proteolytic processing, giving rise to alpha and beta subunits. These subunits are then processed further, resulting in the production of different peptides, including the C3a peptide, also known as the C3a anaphylatoxin. This peptide helps regulate inflammation and exhibits antimicrobial activity. Variants in this gene are associated with atypical hemolytic uremic syndrome and C3 deficiency.
Mastermind has established a strong association between the C3 gene and C3 deficiency, with a moderate association with atypical hemolytic uremic syndrome after examining 342,715 articles and categorizing 8,700 variants.
Click here to see the gene page for this month’s featured gene, C3!
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