Literature associating PLEKHF1 and prune belly syndrome
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 ...