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

Смотрите также:

  • Gene: [12q13/KRTHB6] keratin, hair, basic, 6; hard keratin, type II, 6; monilethrix (alopecia; MIM:158000); [MNX Hb-6 ]
  • HUGEN-кератины типа II