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Sc65 is a novel endoplasmic reticulum protein that regulates bone mass homeostasis.

J Bone Miner Res.. 2013-08; 
Gruenwald K, Castagnola P, Besio R, Dimori M, Chen Y, Akel NS, Swain FL, Skinner RA, Eyre DR, Gaddy D, Suva LJ, Morello R. Department of Physiology & Biophysics, University of Arkansas for Medical Sciences, 4301W. Markham St., #505, Little Rock, AR 72205-7199
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摘要

Members of the Leprecan family of proteins include enzymes, prolyl 3-hydroxylase 1 (P3h1), P3h2 and P3h3, and non-enzymatic proteins, Crtap and Sc65. Mutations in CRTAP and LEPRE1 (encoding P3H1) have been associated with human disease such as recessive osteogenesis imperfecta, however, the function of Sc65 which is closely related and highly homologous to Crtap is unknown. Sc65 has been described as a synaptonemal complex protein, a nucleolar protein, and a cytoplasmic adapter protein. In light of its high sequence similarity with Crtap, an endoplasmic reticulum (ER)-associated protein, and the importance of post-translational modifications such as collagen prolyl 3-hydroxylation in bone metabolism, we hypothe... More

关键词

Crtap; Sc65; bone; endoplasmic reticulum; osteoclasts; osteogenesis imperfecta