Pseudoxanthoma elasticum.
Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP-binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still unknown now mutations in the ABCCC6 gene can lead to manifestations of PXE.
Ohtani
Toshio
T
Department of Dermatology, Wakayama Medical University, Japan.
Furukawa
Fukumi
F
D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D011561:Pseudoxanthoma Elasticum / Q000145:classification / Q000175:diagnosis / Q000235:genetics*
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human