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Beschreibung

Osteopetrosis-associated transmembrane protein 1 (UniProt: Q86WC4, also known as Chloride channel 7 beta subunit) is encoded by the OSTM1 (also known as GL) gene (Gene ID: 28962) in human. Osteopetrosis-associated transmembrane protein 1 is a single-pass type I membrane protein that is required for osteoclast and melanocyte maturation and function. It is synthesized with a signal peptide of 31 amino acids, which is cleaved to produce the mature protein. Loss of OSTM1 leads to the most severe form of osteoporosis in mice and human. Although its role in bone chemistry is well established, several studies have shown its expression in neurons, microglia, and astrocytes. OSTM1-deficiecy in the central nervous system leads to gliosis with increased astrocyte cell population and microglia activation along with retinal degeneration at 2 to 3 weeks of age in mice. (Ref.: Ref.: Heraud, C., et al. 2014. J. Biol. Chem. 289(20), 13912-25).