AP162 antikoerper, B2 antikoerper, OPTB6 antikoerper, BC038943 antikoerper, D330036J23Rik antikoerper, pleckstrin homology and RUN domain containing M1 antikoerper, pleckstrin homology domain containing, family M (with RUN domain) member 1 antikoerper, PLEKHM1 antikoerper, Plekhm1 antikoerper
Hintergrund
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