| Gene Symbol | PLEKHM1 |
| Entrez Gene ID | 9842 |
| Full Name | pleckstrin homology and RUN domain containing M1 |
| Synonyms | AP162,B2,OPTB6 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Osteopetrosis, autosomal recessive 6, 611497 (3) |








































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