DISEASES

Disease-gene associations mined from literature

Literature associating PLEKHF1 and hydronephrosis

PLEKHF1 [ENSP00000389787]

Pleckstrin homology domain-containing family F member 1; 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.

Synonyms:  PLEKHF1,  PLEKHF1p,  hPLEKHF1,  K7EIX0,  K7ELB8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM