TLR4 Chromosome 9

Toll like receptor 4
1 variant 1 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 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. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"CD molecules|Toll like receptors"
Locus Type
gene with protein product
Location
9q33.1
Ensembl
ENSG00000136869
Associated Conditions (1)
Susceptibility to severe COVID-19
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS749154041 Health Risk Conflicting classifications of pathogenicity Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
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