Keratin 2A

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Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.[1][2]

Keratin 2A is a type II cytokeratin. It is found largely in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens.[3]

References

  1. Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW (September 1992). "Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation". Exp. Cell Res. 202 (1): 132–41. doi:10.1016/0014-4827(92)90412-2. PMID 1380918.
  2. Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH (November 1998). "Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens". J. Invest. Dermatol. 111 (5): 817–21. doi:10.1046/j.1523-1747.1998.00371.x. PMID 9804344.
  3. Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR (August 1994). "Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens". Nat. Genet. 7 (4): 485–90. doi:10.1038/ng0894-485. PMID 7524919.

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