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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ： ウィキペディア英語版 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare genetic condition due to a mutation in the gene proteoglycan 4 (PRG4) - a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surfaces. This gene is also known as lubricin. This condition is inherited as an autosomal recessive. ==Genetics== The gene responsible for this condition is located on the long arm of chromosome 1 (1q). The encoded protein is a glycoprotein of ~345 kDa specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. The cDNA encodes a protein of 1,404 amino acids (human A isoform) with a somatomedin B homology domain, heparin-binding domains, multiple mucin-like repeats, a hemopexin domain, and an aggregation domain. There are 3 consensus sequences for N-glycosylation and 1 chondroitin sulfate substitution site. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Camptodactyly-arthropathy-coxa vara-pericarditis syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.