DISEASES

Disease-gene associations mined from literature

Literature associating DDI1 and Angelman syndrome

DDI1 [ENSP00000302805]

Protein DDI1 homolog 1; Probable aspartic protease (Probable). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI2, for cellular survival following replication stress. Together or redudantly with DDI2, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity .

Synonyms:  DDI1,  DDI1p,  hDDI1,  Q8WTU0,  Q8WTU0p ...

Linkouts:  STRING  Pharos  UniProt