DISEASES

Disease-gene associations mined from literature

Literature associating CDC20 and mosaic variegated aneuploidy syndrome 1

CDC20 [ENSP00000361540]

Cell division cycle protein 20 homolog; Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentiation; Belongs to the WD repeat CDC20/Fizzy family.

Synonyms:  CDC20,  CDC20p,  hCDC20,  Q12834,  Q12834p ...

Linkouts:  STRING  Pharos  UniProt