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Keratin 9

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Title: Keratin 9  
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Keratin 9

Keratin 9, type I
Identifiers
Symbols  ; CK-9; EPPK; K9
External IDs GeneCards:
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Keratin 9 is a protein that in humans is encoded by the KRT9 gene.[1][2]

Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated epidermis of palms and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma.[3]

References

  1. ^ Langbein L, Heid HW, Moll I, Franke WW (December 1993). "Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression". Differentiation 55 (1): 57–71.  
  2. ^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74.  
  3. ^ Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K (February 1994). "Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)". Nat. Genet. 6 (2): 174–9.  

Further reading

  • Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68.  
  • Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S (1996). "Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.". FEBS Lett. 386 (2–3): 149–55.  
  • Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50.  
  • Feng W, Han W, Man X, et al. (2008). "Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma". Eur J Dermatol 18 (4): 387–90.  
  • Kierszenbaum AL (2002). "Keratins: unraveling the coordinated construction of scaffolds in spermatogenic cells". Mol. Reprod. Dev. 61 (1): 1–2.  
  • Endo H, Hatamochi A, Shinkai H (1997). "A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma". J. Invest. Dermatol. 109 (1): 113–5.  
  • Covello SP, Irvine AD, McKenna KE, et al. (1998). "Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland". J. Invest. Dermatol. 111 (6): 1207–9.  
  • Hamada T, Ishii N, Karashima T, et al. (2005). "The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses". J. Dermatol. 32 (6): 500–2.  
  • Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell Proteomics 7 (3): 499–508.  
  • Kobayashi S, Kore-eda S, Tanaka T (1999). "Demonstration of the pathogenic effect of point mutated keratin 9 in vivo". FEBS Lett. 447 (1): 39–43.  
  • Zhao JJ, Zhang ZH, Niu ZM, et al. (2008). "Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma". Int. J. Dermatol. 47 (6): 634–7.  
  • Chen XL, Xu CM, Cai SR, et al. (2009). "Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred". Prenat. Diagn. 29 (9): 911–3.  
  • Lee JH, Ahn KS, Lee CH, et al. (2003). "Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma". Exp. Dermatol. 12 (6): 876–81.  
  • Tsunemi Y, Hattori N, Saeki H, et al. (2002). "A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma". J. Dermatol. 29 (12): 768–72.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Li M, Yang LJ, Hua HK, et al. (2009). "Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family". Clin. Exp. Dermatol. 34 (1): 26–8.  
  • Codispoti A, Colombo E, Zocchi L, et al. (2009). "Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression". Eur J Dermatol 19 (2): 114–8.  
  • Frum R, Busby SA, Ramamoorthy M, et al. (2007). "HDM2-binding partners: interaction with translation elongation factor EF1alpha". J. Proteome Res. 6 (4): 1410–7.  
  • Funakushi N, Mayuzumi N, Sugimura R, Ikeda S (2009). "Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes". Arch Dermatol 145 (5): 609–10.  


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