| KRT12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KRT12, K12, keratin 12, MECD1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601687 MGI: 96687 HomoloGene: 188 GeneCards: KRT12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Keratin 12 is a protein that in humans is encoded by the KRT12 gene.[5][6]
Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.[5]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000187242 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020912 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 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 (June 1997). "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy". Nat. Genet. 16 (2): 184–7. doi:10.1038/ng0697-184. PMID 9171831. S2CID 24438634.
- ↑ 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. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
Further reading
- Yoon MK, Warren JF, Holsclaw DS, et al. (2004). "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. doi:10.1136/bjo.2003.032870. PMC 1772161. PMID 15148206.
- Corden LD, Swensson O, Swensson B, et al. (2000). "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. doi:10.1006/exer.1999.0769. PMID 10644419.
- Takahashi K, Takahashi K, Murakami A, et al. (2002). "Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy". Jpn. J. Ophthalmol. 46 (6): 673–4. doi:10.1016/S0021-5155(02)00563-4. PMID 12543196.
- Sullivan LS, Baylin EB, Font R, et al. (2007). "A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy". Mol. Vis. 13: 975–80. PMC 2774455. PMID 17653038.
- Nishida K, Honma Y, Dota A, et al. (1997). "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. doi:10.1086/301650. PMC 1716060. PMID 9399908.
- Nielsen K, Orntoft T, Hjortdal J, et al. (2008). "A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family". Cornea. 27 (1): 100–2. doi:10.1097/ICO.0b013e31815652fd. PMID 18245975. S2CID 37936499.
- Nishida K, Adachi W, Shimizu-Matsumoto A, et al. (1996). "A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA". Invest. Ophthalmol. Vis. Sci. 37 (9): 1800–9. PMID 8759347.
- Gevaert K, Goethals M, Martens L, et al. (2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
- Seto T, Fujiki K, Kishishita H, et al. (2008). "A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy". Jpn. J. Ophthalmol. 52 (3): 224–6. doi:10.1007/s10384-007-0518-2. PMID 18661274. S2CID 189791983.
- Corden LD, Swensson O, Swensson B, et al. (2000). "A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy". Br J Ophthalmol. 84 (5): 527–30. doi:10.1136/bjo.84.5.527. PMC 1723457. PMID 10781519.
- Nichini O, Manzi V, Munier FL, Schorderet DF (2005). "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. doi:10.1080/13816810500374391. PMID 16352477. S2CID 33783068.
- Chen YT, Tseng SH, Chao SC (2005). "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. doi:10.1097/01.ico.0000159732.29930.26. PMID 16227835. S2CID 1495867.
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