Genomic coordinate 9:117,704,403
Here I present: “Endotoxin Hyporesponsiveness: TLR4“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TLR4) 內毒素低反應性。icd10=D89.89
INTRODUCTION.
Toll-like receptor-4 (TLR4) is a key activator of the innate immune response and plays a central role in the fight against bacterial infections. TLR4 is a transmembrane protein of approximately 95 kDa that is encoded by the TLR4 gene on cytogenetic location 9q33.1 and genomic coordinate 9:117,704,403.
Toll-like receptor-4 (TLR4) is a key component of the innate immune system that recognizes both foreign molecules from pathogens and endogenous molecules released from damaged cells. It acts as a sensor, and its activation triggers an immune response by producing pro-inflammatory cytokines and chemokines. TLR4 is involved in various physiological and pathological processes, including chronic liver disease, neurological conditions like Alzheimer’s and neuropathic pain, autoimmune inflammation, and the tumor microenvironment. There is evidence that “endotoxin hyporesponsiveness” is caused by mutation in the TLR4 gene on cytogenetic location 9q33.1 genomic coordinate 9:117,704,403.
