C173498Level 5
PKP2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PKP2 wild-type allele is located in the vicinity of 12p11.21 and is approximately 106 kb in length. This allele, which encodes plakophilin-2 protein, plays a role in the structure of desmosomes. Mutation of the gene is associated with arrhythmogenic right ventricular dysplasia 9.
**Synonyms:** - ARVD9 - Plakophilin 2 wt Allele
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Cross-system equivalences0
No cross-system equivalences mapped for this node.