Gene: [17q2/KRT16] keratin 16, type I, alpha, acidic (pI 5.1; 48kD); pachyonychia congenita (Jadassohn-Lewandowsky type; MIM:167200); nonepidermolytic palmoplantar keratoderma; [CYKA16 ]


REF

MUT "McLean WHI &: Nature Genet, 9, 273-278, 1995
CLO,SEQ,LOC "Rasmussen HH &: Electrophoresis, 13, 960-969, 1992
CLO,SEQ,LOC "Rosenberg M &: Mol Cell Biol, 8, 722-736, 1988
MUT "Shamsher MK &: Hum Mol Genet, 4, 1875-1881, 1995
IDN,PEP,FUN,EVO "see FAM:KRT/00.0

KEY

cysk, derm

CLA

coding, basic

LOC

17 q21-22

MIM

MIM: 148067

SYN

CYKA16

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