| D007633 |
Keratins |
A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION. |
Cytokeratin,Keratin Associated Protein,Keratin,Keratin-Associated Proteins,alpha-Keratin,Associated Protein, Keratin,Keratin Associated Proteins,Protein, Keratin Associated,alpha Keratin |
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| D016110 |
Epidermolysis Bullosa Simplex |
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex. |
Epidermolysis Bullosa Herpetiformis Dowling-Meara,Epidermolysis Bullosa Simplex Kobner,Weber-Cockayne Syndrome,EBS, Acral Form,EBS, Generalized,EBS-DM,Epidermolysis Bullosa Herpetiformis Dowling Meara,Epidermolysis Bullosa Herpetiformis, Dowling-Meara,Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type,Epidermolysis Bullosa Simplex, Cockayne-Touraine Type,Epidermolysis Bullosa Simplex, Dowling-Meara Type,Epidermolysis Bullosa Simplex, Generalized,Epidermolysis Bullosa Simplex, Koebner Type,Epidermolysis Bullosa Simplex, Localized,Epidermolysis Bullosa Simplex, Weber-Cockayne Type,Epidermolysis Bullosa of Hands and Feet,Weber-Cockayne Type Epidermolysis Bullosa Simplex,Acral Form EBS,Acral Form EBSs,Bullosa Simplices, Epidermolysis,EBSs, Acral Form,EBSs, Generalized,Epidermolysis Bullosa Herpetiformis, Dowling Meara,Epidermolysis Bullosa Herpetiformis, Dowling Meara Type,Epidermolysis Bullosa Simplex, Cockayne Touraine Type,Epidermolysis Bullosa Simplex, Dowling Meara Type,Epidermolysis Bullosa Simplex, Weber Cockayne Type,Epidermolysis Bullosa Simplices,Generalized EBS,Generalized EBSs,Weber Cockayne Syndrome,Weber Cockayne Type Epidermolysis Bullosa Simplex |
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