Entrez gene ID | | 9842 |
Official gene symbol | | PLEKHM1 |
Full name | | pleckstrin homology domain containing, family M (with RUN domain) member 1 |
Aliases | | ,AP162,B2,KIAA0356,OPTB6, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17q21.31 |
Gene position | | 43568146 - 43513266 Map Viewer |
Gene orientation | | minus |
Gene size | | 54881 bp |
Gene sequence |
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OMIM ID | | 611466 |