| Entry |
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| Name |
Processing of profilaggrin to filaggrin and binding to keratin filaments
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| Definition |
Profilaggrin -- PP2A+FURIN,PCSK6+ASPRV1+PRSS8,ST14 -> FLG == (KRT1,KRT2+KRT10) |
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| Expanded |
2312,388698 -- 5515,5516+5045,5046+151516+5652,6768 -> 2312,388698 == (3848,3849+3858) |
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| Class |
nt06545 Cornified envelope formation
|
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| Type |
Reference
|
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| Pathway |
|
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| Disease |
| H00734 Autosomal recessive congenital ichthyosis | |
| H02449 Autosomal dominant lamellar ichthyosis | |
| H00691 Bullous congenital ichthyosiform erythroderma | |
|
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| Gene |
| 5515 | PPP2CA; protein phosphatase 2 catalytic subunit alpha |
| 5516 | PPP2CB; protein phosphatase 2 catalytic subunit beta |
| 5045 | FURIN; furin, paired basic amino acid cleaving enzyme |
| 5046 | PCSK6; proprotein convertase subtilisin/kexin type 6 |
| 151516 | ASPRV1; aspartic peptidase retroviral like 1 |
| 5652 | PRSS8; serine protease 8 |
| 6768 | ST14; ST14 transmembrane serine protease matriptase |
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| Reference |
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| Authors |
Hoober JK, Eggink LL |
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| Title |
The Discovery and Function of Filaggrin. |
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| Journal |
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| Reference |
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| Authors |
Egawa G, Kabashima K |
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| Title |
Barrier dysfunction in the skin allergy. |
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| Journal |
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| Reference |
|
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| Authors |
Sandilands A, Sutherland C, Irvine AD, McLean WH |
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| Title |
Filaggrin in the frontline: role in skin barrier function and disease. |
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| Journal |
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| LinkDB |
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