TLR8 Chromosome X

Toll like receptor 8
6 variants 6 Health Risk

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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
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
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