AP162 antibody, B2 antibody, OPTB6 antibody, BC038943 antibody, D330036J23Rik antibody, pleckstrin homology and RUN domain containing M1 antibody, pleckstrin homology domain containing, family M (with RUN domain) member 1 antibody, PLEKHM1 antibody, Plekhm1 antibody
Background
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.Synonyms: KIAA0356, PH domain-containing family M member 1, Pleckstrin homology domain-containing family M member 1