Involved in vesicular transport in the osteoclast. May have a role in sialyl-lex-mediated transduction of apoptotic signals. Defects in PLEKHM1 are the cause of osteopetrosis autosomal recessive type 6 (OPTB6); also known as autosomal recessive osteopetrosis intermediate form. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. Note: This description may include information from UniProtKB.
Alt. Names/Synonyms: 162 kDa adapter protein; AP162; B2; KIAA0356; OPTB6; PH domain-containing family M member 1; PKHM1; pleckstrin homology domain containing, family M (with RUN domain) member 1; Pleckstrin homology domain-containing family M member 1; PLEKHM1