rs756357904

This variant is located in the C8G gene.

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ClinVar annotation

Likely Benign

1 submitter

C8G-related disorder

About C8G

The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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