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