Gene: [01q/PKP1] plakophilin 1 (band 6 protein); ectodermal dysplasia/skin fragility syndrome; [B6P ]


REL

 GEM:00.0/PKP2; GEM:00.0/PKP3.

REF

 LOC "Cowley CME &: Hum Genet, 100, N3-4, 486-488, 1997
CLO,SEQ "Hatzfeld M &: J Cell Sci, 107, 2259-2270, 1994
CLO,SEQ "Heid HW &: Differentiation, 58, N2, 113-131, 1994
MUT "McGrath JA &: Nature Genet, 17, N2, 240-244, 1997

CLA

 coding, basic

LOC

 01 q

MIM

 MIM: 601975

SYN

 B6P