TLR9 Chromosome 3
Toll like receptor 9
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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. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"CD molecules|Toll like receptors|My-T-BRC complex"
Locus Type
gene with protein product
Location
3p21.2
Ensembl
ENSG00000239732
Associated Conditions (1)
Esophageal atresia/tracheoesophageal fistula
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780099835 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |