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Osteopetrosis-associated transmembrane protein 1 (OSTM1) is a Single-pass type I membrane protein. It is expressed in many hematopoietic cells of the myeloid and lymphoid B- and T-lineages. The analysis of OSTM1 association with CLCN7 demonstrated that OSTM1 requires CLCN7 to localize to lysosomes, whereas the formation of a CLCN7-OSTM1 complex is required to stabilize CLCN7. The researches found that OSTM1 plays a major role in myelopoiesis and lymphopoiesis and provided evidence of a crosstalk mechanism between hematopoietic cells for osteoclast activation. Thus, OSTM1 has a important role in osteoclast function and activation. The loss of function of OSTM1 results in deregulation of multiple hematopoietic lineages in addition to osteoclast lineage, OSTM1-defect patients display the most severe recessive osteopetrotic phenotype and die at early ages. Furthermore, it is suggested that OSTM1 has a primary role in neural development not related to lysosomal dysfunction. The canonical Wnt/beta-catenin signaling pathway may be a molecular basis for OSTM1 mutations and severe autosomal recessive osteopetrosis (ARO).
1. Chalhoub, N. et al., 2003, Nat Med. 9 (4): 399-406.
2. Quarello, P. et al., 2004, J Bone Miner Res. 19 (7): 1194-1199.
3. Lange, PF. et al., 2006, Nature. 440 (7081): 220-223
4. Maranda, B. et al., 2008, J Bone Miner Res. 23 (2): 296-300.
5. Feigin, ME.et al., 2008, Cell Signal. 20 (5): 949-957.
6. Pata, M.et al., 2008, J Biol Chem. 283 (45): 30522-30530.