DISEASES

Disease-gene associations mined from literature

Literature associating OAZ1 and neurofibromatosis-Noonan syndrome

OAZ1 [ENSP00000473381]

Ornithine decarboxylase antizyme 1; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin- independent proteolytic destruction by the 26S proteasome . Triggers ODC degradation by inducing the exposure of a cryptic proteasome- interacting surface of ODC . Stabilizes AZIN2 by interfering with its ubiquitination . Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol . ECO:0000269|PubMed:17900240, ECO:0000269|PubMed:26305948,

Synonyms:  OAZ1,  OAZ1p,  hOAZ1,  J3QQY4,  K7EPM6 ...

Linkouts:  STRING  Pharos  UniProt