FUNCTION: THERE ARE TWO TYPES OF CYTOSKELETAL AND MICROFIBRILLAR KERATIN: I (ACIDIC; 40-55 kDa) [K9 TO K20] AND II (NEUTRAL TO BASIC; 56-70 kDa) [K1 TO K8]. BOTH A BASIC AND AN ACIDIC KERATIN ARE REQUIRED FOR FILAMENT ASSEMBLY. * SUBUNIT: HETERODIMER OF A TYPE I AND A TYPE II KERATIN. KRT6 ISOMERS ASSOCIATE WITH KRT16 AND/OR KRT17. * TISSUE SPECIFICITY: CONSTITUTIVELY EXPRESSED IN DISTINCT TYPES OF EPITHELIA SUCH AS THOSE IN ORAL MUCOSA, ESOPHAGUS, PAPILLAE OF TONGUE AND HAIR FOLLICLE OUTER ROOT SHEATH. * DISEASE: DEFECTS IN KRT6A, AS WELL AS IN KRT16, HAVE BEEN FOUND TO BE ASSOCIATED WITH TYPE 1 PACHYONYCHIA CONGENITA (PC) ALSO KNOWN AS JADASSOHN-LEWANDOWSKY SYNDROME. TYPE I PC IS CHARACTERIZED BY ONCHYOGRYPOSIS, PALMOPLANTAR AND FOLLICULAR HYPERKERATOSIS AND ORAL LEUKOKERATOSIS. * MISCELLANEOUS: THERE ARE AT LEAST SIX ISOFORMS OF HUMAN TYPE II KERATIN 6 (K6), K6A BEING THE MOST ABUNDANT REPRESENTING ABOUT 77% OF ALL FORMS FOUND IN EPITHELIA. * SIMILARITY: BELONGS TO THE INTERMEDIATE FILAMENT FAMILY. |
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06-DEC-00
Last Update 13-Mar-03