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PLEKHM1

Official Full Name
pleckstrin homology and RUN domain containing M1
Organism
Homo sapiens
GeneID
9842
Background
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]
Synonyms
B2; AP162; OPTA3; OPTB6;

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