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PLEKHM1 - pleckstrin homology and RUN domain containing M1

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]

Genes similar to PLEKHM1

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Species Gene Architecture aa