TLR8 Chromosome X
Toll like receptor 8
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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 predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Toll like receptors"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000101916
Associated Conditions (6)
Osteoarthritis
INFLTR8
Immunodeficiency 98 with autoinflammation
X-linked
Autoimmune hemolytic anemia
Systemic autoinflammation
Key Variants
RS1569113445
association
Osteoarthritis, Osteoarthritis
Health Risk
RS1569113447
association
Osteoarthritis, Osteoarthritis
Health Risk
RS144647258
Conflicting classifications of pathogenicity
Health Risk
RS151096932
Conflicting classifications of pathogenicity
Health Risk
RS1385657144
Pathogenic
INFLTR8, Immunodeficiency 98 with autoinflammation, X-linked
Health Risk
RS2147259120
Pathogenic
INFLTR8, Immunodeficiency 98 with autoinflammation, X-linked
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569113445 | Health Risk | association | Osteoarthritis, Osteoarthritis |
| RS1569113447 | Health Risk | association | Osteoarthritis, Osteoarthritis |
| RS144647258 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151096932 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1385657144 | Health Risk | Pathogenic | INFLTR8, Immunodeficiency 98 with autoinflammation, X-linked |
| RS2147259120 | Health Risk | Pathogenic | INFLTR8, Immunodeficiency 98 with autoinflammation, X-linked |