DISEASES

Disease-gene associations mined from literature

Literature associating STAMBP and Nager acrofacial dysostosis

STAMBP [ENSP00000377633]

STAM-binding protein; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM- CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways. ECO:0000269|PubMed:15314065, ECO:0000269|PubMed:17261583,

Synonyms:  STAMBP,  A0A140VK54,  C9JEK5,  C9JK83,  C9JZ93 ...

Linkouts:  STRING  Pharos  UniProt