Keratin 12 (KRT12)

CK12; K12; Cytokeratin 12; Meesmann Corneal Dystrophy; Keratin, type I cytoskeletal 12

SPN	W275
HGNC	6414
MGI	96687
PubMed	16431949
RGD	1304805
UniProt	Q99456
Wiki	Keratin_12

Keratin 12 is a keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy. To elucidate the function of keratin 12, Kao et al. (1996) created knockout mice lacking the Krt1.12 gene by gene targeting techniques. The heterozygous mice appeared normal. Homozygous mice developed normally and suffered mild corneal epithelial erosion. The corneal epithelia were fragile and could be removed by gentle rubbing of the eyes or brushing. The corneal epithelium of the homozygotes did not express keratin 12 as judged by immunohistochemistry, Western immunoblot analysis with epitope-specific anti-keratin 12 antibodies, Northern hybridization, and in situ hybridization with an antisense keratin 12 riboprobe.

Reference

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Mol. Vis. 13:975-980(2007) [PubMed] [Europe PMC] [Abstract]

"A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family."
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"Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family."
Mol. Vis. 16:954-960(2010) [PubMed] [Europe PMC] [Abstract]

"Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12."
Eye 27:367-373(2013) [PubMed] [Europe PMC] [Abstract]

"KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy."
Am. J. Ophthalmol. 157:93-102(2014) [PubMed] [Europe PMC] [Abstract]