Gene: [06p1/BPAG1] bullous pemphigoid antigen 1 (230/240kD); epidermolysis bullosa, generalized atrophic benign (MIM:226650); [BP240 ]

FUN

A 230/240kD glycoprotein BPAG1 is a hemidesmosomal protein, one of the components of the basement membrane zone of the skin. It serves as an autoantigen in the blistering disease bullous pemphigoid. About 180kD glycoprotein BPAG2 see GEM:10q243/COL17A1."

GEN

The gene length: 9 kb (approximately); exons: 22 (Tamai-1993; Tamai-1994)."

REF

CLO,LOC,MOU "Copeland NG &: Genomics, 15, 180-181, 1993
FUN,MOU "Guo L &: Cell, 81, 233-243, 1995
CLO,LOC "Minoshima S &: CCG, 57, 30-32, 1991
CLO,LOC "Sawamura D &: Genomics, 8, 722-726, 1990
CLO,SEQ,COD,EXP "Stanley JR &: J Clin Invest, 82, 1864-1870, 1988
GEN,SEQ,LOC "Tamai K &: Dermatology, 189, (Suppl 1), 27-33, 1994
STR,GEN,TIS "Tamai K &: J Clin Invest, 92, 814-822, 1993

SWI

SWISSPROT: Q03001

KEY

derm, exce

CLA

coding, basic

LOC

06 p12-11

MIM

MIM: 113810

SYN

BP240

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