Gene: [17q2/KRT17] keratin 17, type I, alpha, acidic (pI 5.1; 46kD); pachyonychia congenita 1 (Jackson-Lawler type; MIM:167210); [CYKA17 PC ]


REF

MUT "McLean WHI &: Nature Genet, 9, 273-278, 1995
LIN,LOC,PAT "Munro CS &: J Med Genet, 31, 675-678, 1994
CLO,SEQ,GEN,LOC "Troyanovsky SM &: Eur J Cell Biol, 59, 127-137, 1992
IDN,PEP,FUN,EVO "see FAM:KRT/00.0

KEY

cysk, derm

CLA

coding, basic

LOC

17 q21-22

MIM

MIM: 148069

SYN

CYKA17 PC

Смотрите также:

  • Gene: [17q2/KRT14] keratin 14, type I, alpha, acidic (pI 5.3; 50kD); epidermolysis bullosa simplex (Dowling-Meara type; MIM:131760); epidermolysis bullosa simplex (Weber-Cockayne type; MIM:131800); epidermolysis bullosa simplex (EBS2; gener
  • HUGEN-кератины типа I