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; generalized Kobner type; MIM:131900); epidermolysis bullosa simplex, autosomal recessive (MIM:601001); [CYKA14 EBS2 ]
|
MAG |
According to Milisavljevic-1996, the most likely gene order on the chromosome segment 17q12-21 is as follows: <5'..KRT19..KRT15..KRT17..KRT16..KRT14..3'> ----------------------------------------------- GEM:17q2/KRT19; GEM:17q2/KRT15; GEM:17q2/KRT17; GEM:17q2/KRT16; GEM:17q2/KRT14." |
|
HET |
See GEM:08q24/EBS1. |
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REF |
PRO,LOC,REL "Bonifas JM &: Science, 254, 1202-1205, 1991 MUT "Chen H &: J Invest Derm, 105, 629-632, 1995 MUT "Chen MA &: Hum Mol Genet, 2, 1971-1972, 1993 PRO,LOC,REL "Coulombe PA &: Cell, 66, 1301-1311, 1991 PRO,SEQ,EVO "Hanukoglu I, Fuchs: Cell, 31, 243-252, 1982 MUT "Hovnanian A &: Nature Genet, 3, 327-331, 1993 MUT "Humphries MM &: Hum Mut, 8, 57-63, 1996 MUT "Humphries MM &: Hum Mut, 2, 37-42, 1993 LOC,LIN "Humphries MM &: Genomics, 7, 377-381, 1990 GEN,SEQ,EXP "Marchuk D &: PNAS, 82, 1609-1613, 1985 MAG "Milisavljevic V &: Genomics, 34, 134-138, 1996 LOC,LIN "Mulley JC &: AJHG, 49, N5, 978-984, 1991 LOC,LIN "Mulley JC &: Am J Med Genet, 19, 573-577, 1984 PRO,LOC,REL "Rosenberg M &: Mol Cell Biol, 8, 722-736, 1988 MUT "Stephens K &: J Invest Derm, 101, 240-243, 1993 |
|
KEY |
cysk, derm |
|
CLA |
coding, basic |
|
LOC |
17 q21-22 |
|
MIM |
MIM: 148066 |
|
SYN |
CYKA14 EBS2 |
