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PLEKHM1 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.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component: intracellular membrane-bound organelle; nucleolus
Disease: Osteopetrosis, Autosomal Recessive 6
Reference #:  Q9Y4G2 (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
Gene Symbols: PLEKHM1
Molecular weight: 117,443 Da
Basal Isoelectric point: 6.08  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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