DISEASES

Disease-gene associations mined from literature

Literature associating OTUD4 and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

OTUD4 [ENSP00000409279]

OTU domain-containing protein 4; Deubiquitinase which hydrolyzes the isopeptide bond between the ubiquitin C-terminus and the lysine epsilon-amino group of the target protein . May negatively regulate inflammatory and pathogen recognition signaling in innate immune response. Upon phosphorylation at Ser-202 and Ser-204 residues, via IL-1 receptor and Toll-like receptor signaling pathway, specifically deubiquitinates 'Lys-63'-polyubiquitinated MYD88 adapter protein triggering down-regulation of NF-kappa-B-dependent transcription of inflammatory mediators . Independently of the catalytic activity, acts as a scaffold for alternative deubiquitinases to assemble specific deubiquitinase- substrate complexes. Associates with USP7 and USP9X deubiquitinases to stabilize alkylation repair enzyme ALKBH3, thereby promoting the repair of alkylated DNA lesions .

Synonyms:  OTUD4,  OTUD4p,  hOTUD4,  D6RA27,  D6RI06 ...

Linkouts:  STRING  Pharos  UniProt  OMIM