Full name: pleckstrin homology and RUN domain containing M1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AP162; B2; 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

Gene size: 56513bp

Exon count: 17