Biology:Keratin 12
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Keratin 12 is a protein that in humans is encoded by the KRT12 gene.[1][2]
Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.[1]
References
- ↑ 1.0 1.1 "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy". Nat. Genet. 16 (2): 184–7. June 1997. doi:10.1038/ng0697-184. PMID 9171831.
- ↑ "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. July 2006. doi:10.1083/jcb.200603161. PMID 16831889.
Further reading
- "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. doi:10.1136/bjo.2003.032870. PMID 15148206.
- "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. doi:10.1006/exer.1999.0769. PMID 10644419.
- "Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.". Jpn. J. Ophthalmol. 46 (6): 673–4. 2002. doi:10.1016/S0021-5155(02)00563-4. PMID 12543196.
- "A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.". Mol. Vis. 13: 975–80. 2007. PMID 17653038.
- "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. doi:10.1086/301650. PMID 9399908.
- "A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.". Cornea 27 (1): 100–2. 2008. doi:10.1097/ICO.0b013e31815652fd. PMID 18245975.
- "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. PMID 8759347.
- "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. 2003. doi:10.1038/nbt810. PMID 12665801.
- "A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.". Jpn. J. Ophthalmol. 52 (3): 224–6. 2008. doi:10.1007/s10384-007-0518-2. PMID 18661274.
- "A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.". Br J Ophthalmol 84 (5): 527–30. 2000. doi:10.1136/bjo.84.5.527. PMID 10781519.
- "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. doi:10.1080/13816810500374391. PMID 16352477.
- "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. doi:10.1097/01.ico.0000159732.29930.26. PMID 16227835.
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