Gene: [10q243/COL17A1] collagen, type XVII, alpha 1; bullous pemphigoid antigen 2 (180kD); epidermolysis bullosa, generalized atrophic benign (MIM:226650); [BPAG2 BP180 ]
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FUN |
A 180kD glycoprotein BPAG2 is one of the components of the basement membrane zone of the skin. It serves as an autoantigen in the blistering disease bullous pemphigoid. About 230/240kD glycoprotein BPAG1 see GEM:06p1/BPAG1." |
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GEN |
The gene lehgth is 12 kb. Exons: 19 (Li-1991). |
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FAG |
A bullous pemphigoid antigen BPAG2 is a transmembranous hemidesmosomal collagen COL17A1 (Li-1993). About collagen superfamily see FAM:COLL/00.0." |
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REF |
LOC,MOU "Copeland NG &: Genomics, 15, 180-181, 1993 COD,EXP "Diaz &: J Clin Invest, 86, 1088-1094, 1990 MUT,PAT "Jonkman MF &: Arch Derm, 132, 145-150, 1996 MUT,PAT "Jonkman MF &: J Clin Invest, 95, 1345-1352, 1995 CLO,SEQ,FUN "Li KH &: JBC, 268, 8825-8834, 1993 LOC,GEN,SEQ,EVO,PEP "Li KH &: JBC, 266, 24064-24069, 1991 MUT,PAT "McGrath JA &: Nature Genet, 11, 83-86, 1995 LOC,COD,EXP,POL "Sawamura D &: J Invest Derm, 96, 908-915, 1991 |
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KEY |
derm, exce |
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CLA |
coding, basic |
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LOC |
10 q24.3 |
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MIM |
MIM: 113811 |
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SYN |
BPAG2 BP180 |
