PLEKHM1, Official Symbol PLEKHM1provided by HGNC Official Full Name pleckstrin homology and RUN domain containing M1provided by HGNC Primary source HGNC:HGNC:29017 See related Ensembl:ENSG00000225190 MIM:611466; AllianceGenome:HGNC:29017 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B2; AP162; OPTA3; OPTB6 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] Expression Ubiquitous expression in esophagus (RPKM 12.9), bone marrow (RPKM 10.7) and 25 other tissues See more Orthologs mouse all