Synonyms:AP162, B2, ENTREZ:9842, HGNC:29017, MIM:611466, NM_001352825, NM_014798, NP_001339754, NP_055613, NR_027774, NR_027782, OPTA3, OPTB6, PLEKHM1, XM_006722201, XM_011525523, XM_011525524, XM_011525525, XM_011525526, XM_011525528, XM_017025451, XM_017025452, XM_017025453, XM_017025454, XP_006722264, XP_011523825, XP_011523826, XP_011523827, XP_011523828, XP_011523830, XP_016880940, XP_016880941, XP_016880942, XP_016880943, XR_934624, XR_934625, pleckstrin homology and RUN domain containing M1
Omim:OMIM:611466
Id:ENSG00000225190
Hgnc:HGNC:29017
Description:pleckstrin homology and RUN domain containing M1
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]