Disease-gene associations mined from literature

Literature associating USP48 and multiple endocrine neoplasia type 4

USP48 [ENSP00000309262]

Ubiquitin-specific-processing protease 48; Recognizes and hydrolyzes the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites; Belongs to the peptidase C19 family.

Synonyms:  USP48,  USP48p,  hUSP48,  E9PJ87,  E9PJ93 ...

Linkouts:  STRING  Pharos  UniProt