DISEASES

Disease-gene associations mined from literature

Literature associating PPP1R13L and Noonan syndrome with multiple lentigines

PPP1R13L [ENSP00000354218]

RelA-associated inhibitor; Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis . ECO:0000269|PubMed:12134007, ECO:0000269|PubMed:12524540,

Synonyms:  PPP1R13L,  A0A024R0Q5,  K7EML6,  K7EN03,  K7ENG6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM