Disease:Defects in KRT17 are a cause of pachyonychia congenita type 2 (PC2) [MIM:167210]; also known as pachyonychia congenita Jackson-Lawler type. PC2 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail) , palmoplantar keratoderma and hyperhidrosis , follicular hyperkeratosis , multiple epidermal cysts , absent/sparse eyebrow and body hair , and by the presence of natal teeth. ,Disease:Defects in KRT17 are a cause of steatocystoma multiplex (SM) [MIM:184500]. SM is a disease characterized by round or oval cystic tumors widely distributed on the back , anterior trunk , arms , scrotum , and thighs. ,Disease:KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris. ,Function:May play a role in the formation and maintenance of various skin appendages , specifically in determining shape and orientation of hair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial "stem cells". May act as an autoantigen in the immunopathogenesis of psoriasis , with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation. Required for the correct growth of hair follicles , in particular for the persistence of the anagen (growth) state. Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway. Involved in tissue repair. ,induction:Induced in damaged or stressed epidermis. Induced by the cytokines interferon-gamma (IFN-gamma) , tumor necrosis factor alpha (TNF-alpha) and transforming growth factor-alpha (TGF-alpha) , and by the potent NF-kappa B inhibitor compounds Bay 11-7082 and Bay 11-7085. Down-regulated by the drug Imatinib. ,miscellaneous:There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa) . ,online information:Keratin-17 entry ,similarity:Belongs to the intermediate filament family. ,subunit:Heterodimer of a type I and a type II keratin. KRT17 associates with KRT6 isomers. Interacts with TRADD and SFN. ,tissue specificity:Expressed in the outer root sheath and medulla region of hair follicle specifically from eyebrow and beard , digital pulp , nail matrix and nail bed epithelium , mucosal stratified squamous epithelia and in basal cells of oral epithelium , palmoplantar epidermis and sweat and mammary glands. Also expressed in myoepithelium of prostate , basal layer of urinary bladder , cambial cells of sebaceous gland and in exocervix (at protein level) . ,
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