DISEASES

Disease-gene associations mined from literature

Literature associating PIDD1 and primary autosomal recessive microcephaly 19

PIDD1 [ENSP00000337797]

P53-induced death domain-containing protein 1; Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis (PubMed:10973264, PubMed:15073321, PubMed:16360037, PubMed:17159900). Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis . Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B (PubMed:16360037, PubMed:17159900). ECO:0000269|PubMed:15073321, ECO:0000269|PubMed:16360037,

Synonyms:  PIDD1,  PIDD1p,  hPIDD1,  E9PPT6,  H0YE55 ...

Linkouts:  STRING  Pharos  UniProt