This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants.
应用类型
WB, IHC
免疫原
A synthetic peptide of human Desmoplakin(NP_004406.2).
