TLR5 Chromosome 1

Toll like receptor 5
4 variants 3 Health Risk 1 Protective

Upload your DNA to see your personal genotypes for variants in TLR5.

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
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
Sign Up to Analyze Your DNA Log In