Gene: [12q1/KRT5] keratin 5, type II, beta, basic (pI 7.4; 58kD); epidermolysis bullosa simplex (Dowling-Meara type; MIM:131760); epidermolysis bullosa simplex (Weber-Cockayne type; MIM:131800); epidermolysis bullosa simplex (EBS2; generalized Kobner type; MIM:131900); epidermolysis bullosa simplex with mottled pigmentation (MIM:131960); [CYKB5 EBS2 ]
HET | See GEM:08q24/EBS1. |
REF | LOC "Bonifas JM &:
Genomics, 13, 452-454, 1992 LOC "Bonifas JM &: Science, 254, 1202-1205, 1991 MUT "Chan YM &: J Cell Sci, 107, 765-774, 1994 MUT "Chan YM &: PNAS, 90, 7414-7418, 1993 MUT "Dong W &: Hum Mut, 2, 94-102, 1993 PRO,SEQ,EXP "Eckert RL, Rorke EA: DNA, 7, 337-345, 1988 MUT "Ehrlich P &: J Invest Derm, 104, 877-879, 1995 MUT "Humphries MM &: Hum Mut, 8, 57-63, 1996 MUT "Irvine AD &: J Invest Derm, 108, 809-810, 1997 MUT "Lane EB &: Nature, 356, 244-246, 1992 PRO,SEQ,EXP "Lersch R, Fuchs E: Mol Cell Biol, 8, 486-493, 1988 POL "Mischke D &: AJHG, 46, 548-552, 1990 MUT "Nomura K &: J Invest Derm, 107, 253-254, 1996 LOC "Rosenberg M &: CCG, 57, 33-38, 1991 MUT "Rugg EL &: Nature Genet, 5, 294-300, 1993 LOC,LIN "Ryynanen M &: AJHG, 49, N5, 978-984, 1991 MUT "Stephens K &: AJHG, 56, 577-585, 1995 MUT "Uttam J &: PNAS, 93, 9079-9084, 1996 MUT "Wanner R &: J Invest Derm, 100, 735-741, 1993 |
SWI | SWISSPROT: P13647 |
KEY | cysk, derm |
CLA | coding, basic |
LOC | 12 q11-13 |
MIM | MIM: 148040 |
SYN | CYKB5 EBS2 |
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