Aliases for KRT17 Gene
External Ids for KRT17 Gene
Previous HGNC Symbols for KRT17 Gene
Previous GeneCards Identifiers for KRT17 Gene
This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
GeneCards Summary for KRT17 Gene
KRT17 (Keratin 17) is a Protein Coding gene. Diseases associated with KRT17 include Steatocystoma Multiplex and Pachyonychia Congenita 2. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include structural molecule activity and MHC class II receptor activity. An important paralog of this gene is KRT14.
UniProtKB/Swiss-Prot Summary for KRT17 Gene
Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). 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 (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cells'. Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). 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.