3TT9

Crystal structure of the stable degradation fragment of human plakophilin 2 isoform a (PKP2a) C752R variant

3TT9 の概要

• エントリーDOI: 10.2210/pdb3tt9/pdb
• 分子名称: Plakophilin-2, GLYCEROL (3 entities in total)
• 機能のキーワード: cell adhesion
• 由来する生物種: Homo sapiens (human)
• 細胞内の位置: Nucleus: Q99959
• タンパク質・核酸の鎖数: 1
• 化学式量合計: 26398.24

構造登録者

Schuetz, A.,Roske, Y.,Gerull, B.,Heinemann, U. (登録日: 2011-09-14, 公開日: 2012-08-01, 最終更新日: 2024-03-13)

主引用文献

Kirchner, F.,Schuetz, A.,Boldt, L.H.,Martens, K.,Dittmar, G.,Haverkamp, W.,Thierfelder, L.,Heinemann, U.,Gerull, B.
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
Circ Cardiovasc Genet, 5:400-411, 2012

PubMed Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder mainly caused by dominant mutations in several components of the cardiac desmosome including plakophilin-2 (PKP2), the most prevalent disease gene. Little is known about the underlying genetic and molecular mechanisms of missense mutations located in the armadillo (ARM) domains of PKP2, as well as their consequences on human cardiac pathology.

PubMed: 22781308
DOI: 10.1161/CIRCGENETICS.111.961854

実験手法

X-RAY DIFFRACTION (1.55 Å)