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 |
