KRT17

(Keratin 17)

 

  • Alias                                 (According to NCBI)

 
  • K17 
  • PC 
  • PC2
  • PCHC1
  • keratin 17
  • pachyonychia congenita 1 (Jackson-Lawler type)
  • Keratin, type I cytoskeletal 17 (Cytokeratin 17) (K17) (CK 17) (39.1).
  • KRT17 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.
  • Location: 17q21.2
  • Orientation: minus strand
  • Size:  5114 bp
  • 8 exons
  • DNA sequence (Human): NC_000017

  • CGH (17q21.2):  Losses (%) -1.7  Gain (%)  7.8 
  • Mutations and SNPs (According to HGMD and SNP)
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 431 amino acids; 47974 Da
  • Catalytic activity:

  • Subcellular location: intracellular,cytoplasm,cytoskeleton

  • Protein domains

                                   
  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:
  • Clinical                            (According to OMIM, PubMed)