Keratin 12 Explained

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.^[1] It's a type I keratin.

Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.^[2]

Further reading

• Yoon MK, Warren JF, Holsclaw DS, etal . A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. . Br J Ophthalmol . 88 . 6 . 752–6 . 2004 . 15148206 . 10.1136/bjo.2003.032870 . 1772161.
• Corden LD, Swensson O, Swensson B, etal . Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. . Exp. Eye Res. . 70 . 1 . 41–9 . 2000 . 10644419 . 10.1006/exer.1999.0769 .
• Takahashi K, Takahashi K, Murakami A, etal . Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. . Jpn. J. Ophthalmol. . 46 . 6 . 673–4 . 2002. 12543196 . 10.1016/S0021-5155(02)00563-4.
• Sullivan LS, Baylin EB, Font R, etal . A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. . Mol. Vis. . 13 . 975–80 . 2007 . 17653038 . 2774455.
• Nishida K, Honma Y, Dota A, etal . Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. . Am. J. Hum. Genet. . 61 . 6 . 1268–75 . 1997 . 9399908 . 10.1086/301650 . 1716060.
• Nielsen K, Orntoft T, Hjortdal J, etal . A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. . Cornea . 27 . 1 . 100–2 . 2008 . 18245975 . 10.1097/ICO.0b013e31815652fd . 37936499 .
• Nishida K, Adachi W, Shimizu-Matsumoto A, etal . A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA. . Invest. Ophthalmol. Vis. Sci. . 37 . 9 . 1800–9 . 1996 . 8759347 .
• Gevaert K, Goethals M, Martens L, etal . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. . Nat. Biotechnol. . 21 . 5 . 566–9 . 2003 . 12665801 . 10.1038/nbt810 . 23783563 .
• Seto T, Fujiki K, Kishishita H, etal . A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. . Jpn. J. Ophthalmol. . 52 . 3 . 224–6 . 2008. 18661274 . 10.1007/s10384-007-0518-2 . 189791983 .
• Corden LD, Swensson O, Swensson B, etal . A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. . Br J Ophthalmol . 84 . 5 . 527–30 . 2000 . 10781519 . 10.1136/bjo.84.5.527 . 1723457.
• Nichini O, Manzi V, Munier FL, Schorderet DF . Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. . Ophthalmic Genet. . 26 . 4 . 169–73 . 2005 . 16352477 . 10.1080/13816810500374391 . 33783068 .
• Chen YT, Tseng SH, Chao SC . Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. . Cornea . 24 . 8 . 928–32 . 2005 . 16227835 . 10.1097/01.ico.0000159732.29930.26. 1495867 .

Notes and References

1. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW . New consensus nomenclature for mammalian keratins . J. Cell Biol. . 174 . 2 . 169–74 . July 2006 . 16831889 . 2064177 . 10.1083/jcb.200603161 .
2. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH . Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy . Nat. Genet. . 16 . 2 . 184–7 . June 1997 . 9171831 . 10.1038/ng0697-184 . 24438634 .