DSP

Synonym(s): KPPS2, PPKS2, DPI, DPII

Locus: 6pter-p21

Protein: Desmoplakin

Disorder(s):

• Skin Fragility-Woolly Hair Syndrome
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
• Epidermolysis Bullosa, Lethal Acantholytic
• DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome
• Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma