Gene: [12q1/KRT2A] keratin 2A, type II, beta, basic (epidermal; pI 7.8; 65.5kD); epidermal ichthyosis bullosa of Siemens (MIM:146800); [CYKB2 KRT2 ]

REF

CLO,SEQ,EXP "Collin C &: Exp Cell Res, 202, 132-141, 1992
MUT "Kremer H &: J Invest Derm, 103, 286-289, 1994
MUT "McLean WHI &: J Invest Derm, 103, 277-281, 1994
MUT "Rothnagel JA &: Nature Genet, 7, 485-490, 1994
MUT "Yang J-M &: J Invest Derm, 109, N1, 116-118, 1997
IDN,PEP,FUN,EVO "see FAM:KRT/00.0

SWI

SWISSPROT: P35908

KEY

cysk, derm

CLA

coding, basic

LOC

12 q11-13

MIM

MIM: 600194

SYN

CYKB2 KRT2

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