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 |
