Disease-gene associations mined from literature

Literature associating PERP and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

PERP [ENSP00000397157]

P53 apoptosis effector related to PMP-22; Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity).

Synonyms:  PERP,  Q96FX8,  dJ496H19.1,  KCP1,  KRTCAP1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM