Keratin 2A

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Keratin 2
Identifiers
Symbols KRT2 ; CK-2e; K2e; KRT2A; KRT2E; KRTE
External IDs OMIM600194 MGI96699 HomoloGene30974 GeneCards: KRT2 Gene
Orthologs
Species Human Mouse
Entrez 3849 16681
Ensembl ENSG00000172867 ENSMUSG00000064201
UniProt P35908 Q3TTY5
RefSeq (mRNA) NM_000423 NM_010668
RefSeq (protein) NP_000414 NP_034798
Location (UCSC) Chr 12:
53.04 – 53.05 Mb
Chr 15:
101.81 – 101.82 Mb
PubMed search [1] [2]

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[edit]

  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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