Desmoplakin I Desmoplakin II DPI DPII DSP KPPS2 PPKS2VIIIacetyltransferase p300 p300 HAT E1A-associated protein p300
Gene Full Name
desmoplakin
Gene Summary
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. [provided by RefSeq, Jan 2016]