Gene: [17q21/KRT9] keratin 9, type I, alpha, acidic (pI 5.4; 64kD); epidermolytic palmoplantar keratoderma; [CYKA9 ]
CAG |
On diffuse non-epidermolytic palmoplantar keratoderma (Bothnian type) see GEM:12q1/PPKB." |
REF |
LOC,MUT "Hennies HC &: Hum Genet, 93, 649-654, 1994 CLO,SEQ "Langbein L &: Differentiation, 55, 57-72, 1993 LOC,MUT "Reis A &: Nature Genet, 6, 174-179, 1994 CLO,SEQ "Rosen EM: BBRC, 168, 1082-1088, 1990 LOC,MUT "Torchard D &: Nature Genet, 6, 106-110, 1994 IDN,PEP,FUN,EVO "see FAM:KRT/00.0 |
KEY |
cysk, derm |
CLA |
coding, basic |
LOC |
17 q21.1-.2 |
MIM |
MIM: 144200 |
SYN |
CYKA9 |