DISEASES

Disease-gene associations mined from literature

Literature associating PLEKHF1 and prune belly syndrome

PLEKHF1 [ENSP00000389787]

Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains; May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase- independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8; Pleckstrin homology domain containing

Synonyms:  PLEKHF1,  PLEKHF1p,  hPLEKHF1,  B4DWN9,  K7EIX0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM