Aliases for PLEKHM1 Gene
External Ids for PLEKHM1 Gene
Previous GeneCards Identifiers for PLEKHM1 Gene
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
GeneCards Summary for PLEKHM1 Gene
PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1) is a Protein Coding gene. Diseases associated with PLEKHM1 include Osteopetrosis, Autosomal Recessive 6 and Plekhm1-Related Autosomal Recessive Osteopetrosis. An important paralog of this gene is PLEKHM3.
UniProtKB/Swiss-Prot for PLEKHM1 Gene
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 (PubMed:25498145). Involved in vesicular transport in the osteoclast (By similarity). May be involved in negative regulation of endocytic transport from early endosome to late endosome/lysosome implicating its association with Rab7 (PubMed:20943950). May have a role in sialyl-lex-mediated transduction of apoptotic signals (PubMed:12820725). 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 (PubMed:25500191).