This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014],
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Function:
Disease:Defects in UNC93B1 are associated with susceptibility to herpes simplex encephalitis (HSE) [MIM:610551]. HSE is a rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. UNC93B-deficient HSE does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies.,online information:UNC93B1 mutation db,similarity:Belongs to the unc-93 family.,tissue specificity:Expressed in heart, heart, and at lower level in kidney. Expressed at low level in other tissues.,
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Cellular Localization:
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Endosome . Lysosome . Cytoplasmic vesicle, phagosome . Relocalizes from endoplasmic reticulum to endosome and lysosome upon cell-stimulation with CpG dinucleotides (By similarity). Colocalizes with LAMP5 in large endosomal intracellular vesicles. .