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The protein encoded by KRT3/12 is a member of the keratin gene family.
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we show that the two PAX6 (zeige PAX6 Antikörper) isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12 (zeige KRT12 Antikörper)). PAX6 (zeige PAX6 Antikörper) isoform-a induced KRT3 expression by targeting its upstream region. KLF4 (zeige KLF4 Antikörper) enhanced this induction. A combination of PAX6 (zeige PAX6 Antikörper) isoform-b, KLF4 (zeige KLF4 Antikörper), and OCT4 (zeige POU5F1 Antikörper) induced KRT12 (zeige KRT12 Antikörper) expression
Exon sequencing of KRT3 and KRT12 (zeige KRT12 Antikörper) in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy.
A novel missense mutation (R503P) in KRT3 leads to MCD in 2 unrelated Taiwanese families.
Location of the E498V mutation emphasizes the functional relevance of the highly conserved boundary motifs at the COOH-terminus of the alpha-helical rod domain in keratin 3 (zeige KRT3 Antikörper) (K3).
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.
65 kDa cytokeratin
, cytokeratin 3
, keratin, type II cytoskeletal 3
, type-II keratin Kb3