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.,
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. .
Expressed in plasmocytoid dendritic cells (at protein level). Highly expressed in antigen-presenting cells. Expressed in heart, and at lower level in kidney. Expressed at low level in other tissues.
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