Col1a2
收藏rgd.mcw.edu2025-03-24 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=730985
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This gene encodes the alpha-2 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-1 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice harboring certain mutations in the encoded gene exhibit symptoms of moderate to severe forms of osteogenesis imperfecta. [provided by RefSeq, Dec 2015]
本基因编码形成纤维的I型胶原的α-2亚基，该亚基是骨骼、皮肤和肌腱细胞外基质中最丰富的蛋白质。编码的蛋白质与α-1亚基结合，形成异三聚体I型前胶原，在纤维形成过程中经历蛋白酶解加工。携带编码基因特定突变的小鼠表现出从轻度到重度的成骨不全症症状。[由RefSeq提供，2015年12月]
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