3TT9

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

Summary for 3TT9

Entry DOI	10.2210/pdb3tt9/pdb
Descriptor	Plakophilin-2, GLYCEROL (3 entities in total)
Functional Keywords	cell adhesion
Biological source	Homo sapiens (human)
Cellular location	Nucleus: Q99959
Total number of polymer chains	1
Total formula weight	26398.24
Authors	Schuetz, A.,Roske, Y.,Gerull, B.,Heinemann, U. (deposition date: 2011-09-14, release date: 2012-08-01, Last modification date: 2024-03-13)
Primary citation	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 Cited by 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 PDB entries with the same primary citation
Experimental method	X-RAY DIFFRACTION (1.55 Å)

Structure validation