Gene: [12q1/KRT1] keratin 1, type II, beta, basic (keratin H; hair alpha protein; pI 7.8; 67kD); epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma; MIM:113800); [KRTA K1 KRTH ]
GEN | The gene length is 6.3 kb. |
PRO | The probe pK456 contains a 1.95-kb cDNA fragment coding for 75% of KRT1 mRNA. |
REF | MUT "Compton JG:
Nature Genet, 6, 6-7, 1994 LOC,LIN,PAT "Compton JG &: Nature Genet, 1, 301-305, 1992 GEN,SEQ,EVO "Johnson LD &: PNAS, 82, (Apr), 1896-1900, 1985 MUT "Kimonis V &: J Invest Derm, 103, 764-769, 1994 LOC,LIN,FAG "Lessin SR &: J Invest Derm, 91, 572-578, 1988 PRO,LOC "Popescu NC &: Hum Genet, 82, 109-112, 1989 LOC,LIN,PAT "Pulkkinen L &: J Clin Invest, 91, 357-361, 1993 LOC,LIN,PAT "Rothnagel JA &: Science, 257, 1128-1130, 1992 PRO,SEQ,PRO "Steinert PM &: JBC, 260, 7142-7149, 1985 LOC "Yoon S-J &: Genomics, 24, 502-508, 1994 |
SWI | SWISSPROT: P04264 |
KEY | cysk, derm |
CLA | coding, basic |
LOC | 12 q12-13 |
MIM | MIM: 139350 |
SYN | KRTA K1 KRTH |
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