C6

Chr 5p13.1

complement C6

MANE:: ENST00000337836.10

OMIM: 217050 ↗NCBI: 729 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

C6 · P13671

v62025-08-01

Predicted Aligned Error matrix for C6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

934 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)71%
Low(50–70)12%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Immunodeficiency due to a late component of complements deficiency
0.75
complement deficiency
0.46
immunodeficiency due to a late component of complement deficiency
0.45
hereditary disease
0.42
male reproductive organ cancer
0.29
benign neoplasm of brain
0.15
central nervous system neoplasm
0.15
cardiomyopathy
0.13
macular degeneration
0.13
benign neoplasm of adrenal gland
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complement component C6

Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis (PubMed:22267737, PubMed:22832194, PubMed:26841837, PubMed:27052168, PubMed:30552328). The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways (PubMed:30552328, PubMed:39914456, PubMed:39814882). The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:30552328). Together with component C5b, involved in MAC complex assembly: complement C5b and C6 associate with the outer leaflet of target cell membrane, reducing the energy for membrane bending (PubMed:30552328, PubMed:32569291)