Disease-gene associations mined from literature

Literature associating PLEKHM1 and craniodiaphyseal dysplasia

PLEKHM1 [ENSP00000389913]

Pleckstrin homology domain containing, family M (with RUN domain) member 1; Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7. May have a role in sialyl-lex-mediated transduction of apoptotic signals. Involved in bone resorption (By similarity). In case of infection contributes to Salmonella typhimurium pathogenesis by supporting the integrity of the Salmonella- containing vacuole (SCV) probably in concert with the HOPS complex and Rab7; Pleckstrin homology domain containing

Synonyms:  PLEKHM1,  LOC102724267,  PLEKHM1p,  hPLEKHM1,  J3KRU0 ...

Linkouts:  STRING  Pharos  UniProt