Description
Product Characteristics:
Involved in vesicular transport in the osteoclast (By similarity). May have a role in sialyl-lex-mediated transduction of apoptotic signals.Tissue specificity: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7.Involvement in disease: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.
Subcellular location: Cytoplasm
Synonyms: 162 kDa adapter protein, AP162, PH domain-containing family M member 1, PKHM1_HUMAN, Pleckstrin homology domain-containing family M member 1, PLEKHM1.
Target Information: 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]