TLR1 Chromosome 4
Toll like receptor 1
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What This Gene Does
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Toll like receptors"
Locus Type
gene with protein product
Location
4p14
Ensembl
ENSG00000174125
Associated Conditions (7)
Leprosy
susceptibility to
5
TLR1-related disorder
Rheumatoid arthritis
protection against
1
Key Variants
RS4833095
Benign; risk factor
Leprosy, susceptibility to, 5
Health Risk
RS56205407
Pathogenic
Rheumatoid arthritis, Rheumatoid arthritis
Health Risk
RS773682011
Pathogenic
Rheumatoid arthritis, Rheumatoid arthritis
Health Risk
RS5743618
Conflicting classifications of pathogenicity; protective
Leprosy, protection against, TLR1-related disorder
Protective
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS4833095 | Health Risk | Benign; risk factor | Leprosy, susceptibility to, 5 |
| RS56205407 | Health Risk | Pathogenic | Rheumatoid arthritis, Rheumatoid arthritis |
| RS773682011 | Health Risk | Pathogenic | Rheumatoid arthritis, Rheumatoid arthritis |
| RS5743618 | Protective | Conflicting classifications of pathogenicity; protective | Leprosy, protection against, TLR1-related disorder |