TLR5 Chromosome 1
Toll like receptor 5
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What This Gene Does
This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Toll like receptors
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000187554
Associated Conditions (7)
Legionnaire disease
susceptibility to
TLR5-related disorder
Systemic lupus erythematosus
resistance to
1
Melioidosis
Key Variants
RS2072493
Benign; risk factor
Legionnaire disease, susceptibility to, TLR5-related disorder
Health Risk
RS138917078
Conflicting classifications of pathogenicity
Health Risk
RS140469324
Conflicting classifications of pathogenicity
Health Risk
RS5744168
protective; risk factor
Legionnaire disease, susceptibility to, Systemic lupus erythematosus
Protective
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2072493 | Health Risk | Benign; risk factor | Legionnaire disease, susceptibility to, TLR5-related disorder |
| RS138917078 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140469324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS5744168 | Protective | protective; risk factor | Legionnaire disease, susceptibility to, Systemic lupus erythematosus |