DISEASES

Disease-gene associations mined from literature

Literature associating UNC93B1 and immunodeficiency 31B

UNC93B1 [ENSP00000227471]

Protein unc-93 homolog B1; 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. ; Belongs to the unc-93 family.

Synonyms:  UNC93B1,  UNC93B1p,  hUNC93B1,  E9PNE5,  E9PR93 ...

Linkouts:  STRING  Pharos  UniProt  OMIM