Keratin 12

KRT12
Identifiers
Aliases	KRT12 , K12, keratin 12, MECD1
External IDs	OMIM: 601687; MGI: 96687; HomoloGene: 188; GeneCards: KRT12; OMA:KRT12 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	40,867,223 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	99,313,085 bp
RNA expression pattern
	Top expressed in
	gonad; ; testicle; ; mucosa of transverse colon; ; eye; ; duodenum; ; skin of abdomen; ; rectum; ; skin of leg; ; vagina; ; ectocervix;
	Top expressed in
	corneal stroma; ; ciliary body; ; conjunctival fornix; ; epithelium of lens; ; retinal pigment epithelium; ; primary oocyte; ; olfactory tubercle; ; piriform cortex; ; secondary oocyte; ; iris;
	More reference expression data
	n/a
Gene ontology
Molecular function	structural molecule activity ;
Cellular component	intermediate filament ; extracellular exosome ; cytosol ;
Biological process	visual perception ; keratinization ; cornification ;
	Sources:Amigo / QuickGO
Orthologs
	3859
	268482
	ENSG00000187242
	ENSMUSG00000020912
	Q99456
	Q64291
	NM_000223
	NM_010661
	NP_000214
	NP_034791
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 15, 2024

Keratin 12 is a protein that in humans is encoded by the KRT12 gene.^[5]^[6] 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.^[5]

Related Research Articles

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Meesmann corneal dystrophy (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal dystrophy and a keratin disease. MECD is characterized by the formation of microcysts in the outermost layer of the cornea, known as the anterior corneal epithelium. The anterior corneal epithelium also becomes fragile. This usually affects both eyes rather than a single eye and worsens over time. There are two phenotypes, Meesmann corneal dystrophy 1 (MECD1) and Meesmann corneal dystrophy 2 (MECD2), which affect the genes KRT3 and KRT12, respectively. A heterozygous mutation in either of these genes will lead to a single phenotype. Many with Meesmann corneal dystrophy are asymptomatic or experience mild symptoms.

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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.

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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000187242 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020912 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9171831-5] 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.

[pmid16831889-6] 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.

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Keratin 12

Related Research Articles

References

Further reading