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)
PLEKHM1 (AAH64361, 957 a.a. ~ 1056 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
PLEKHM1 (pleckstrin homology and RUN domain containing M1) is involved in the end stages of endocytic and autophagy pathways. Here, it interacts with RAB7 (member of RAS oncogene family), the HOPS (homotypic fusion and vacuole protein sorting) complex and ATG8 (autophagy-related protein 8) proteins. It plays an important role in autophagosome-lysosome fusion and endosome and autophagosome maturation. PLEKHM1 also participates in osteoclast function and bone resorption. In presence of Salmonella enterica Typhimurium, the PLEKHM1-RAB7-HOPS complex targets the Salmonella effector protein SifA (Salmonella-induced filament protein A) and controls vacuoles consisting of Salmonella.
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Solution in phosphate buffered saline, pH 7.4
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