UNC93B1 Antibody – Rabbit Polyclonal

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]

UNC93B1: Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B- cells removal. Defects in UNC93B1 are associated with herpes simplex encephalitis type 1 (HSE1). 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. Mutations in UNC93B1 resulting in autosomal recessive UNC93B1 deficieny predispose otherwise healthy individuals to isolated herpes simplex encephalitis due to impaired IFNs production. UNC93B1 deficieny, however, does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Belongs to the unc-93 family.

Protein type: Membrane protein, multi-pass; Cell surface; Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q13

Cellular Component: Golgi membrane; endoplasmic reticulum membrane; lysosome; endoplasmic reticulum; integral to membrane; endosome

Biological Process: intracellular protein transport; toll-like receptor signaling pathway; antigen processing and presentation of exogenous peptide antigen via MHC class II; innate immune response; toll-like receptor 9 signaling pathway; toll-like receptor 3 signaling pathway; toll-like receptor 7 signaling pathway; defense response to virus

Disease: Herpes Simplex Encephalitis, Susceptibility To, 1