Official Full Name
pleckstrin homology domain containing, family M (with RUN domain) member 1
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.
PLEKHM1; pleckstrin homology domain containing, family M (with RUN domain) member 1; pleckstrin homology domain-containing family M member 1; KIAA0356; 162 kDa adapter protein; AP162; PH domain-containing family M member 1; PKHM1_HUMAN; B2; OPTB6; wu:fc17c08; wu:fc23c01; wu:fc29h10; zgc:158281