[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Cassidy A.J.,
Morley S.M.,
McLean W.H.I.;
"A mutation detection strategy for oral mucosal keratins K4, K13, and K2p in white sponge nevus.";
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Ovary;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-144, AND VARIANTS VAL-72 AND 83-GLY--THR-96 DEL.
DOI=10.1111/1523-1747.ep12475671; PubMed=7684424 [NCBI, ExPASy, EBI, Israel, Japan]
Wanner R.,
Foerster H.-H.,
Tilmans I.,
Mischke D.;
"Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12.";
J. Invest. Dermatol. 100:735-741(1993).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] OF 127-534, AND TISSUE SPECIFICITY.
DOI=10.1083/jcb.106.4.1249; PubMed=2452170 [NCBI, ExPASy, EBI, Israel, Japan]
Leube R.E.,
Bader B.L.,
Bosch F.X.,
Zimbelmann R.,
Achtstaetter T.,
Franke W.W.;
"Molecular characterization and expression of the stratification-related cytokeratins 4 and 15.";
J. Cell Biol. 106:1249-1261(1988).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 411-534.
Wanner R.,
Tilmans I.,
Mischke D.;
Submitted (JUL-1991) to the EMBL/GenBank/DDBJ databases.
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[6]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[7]
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VARIANT WSN GLN-153 INS.
DOI=10.1046/j.1523-1747.2000.00890.x; PubMed=10652003 [NCBI, ExPASy, EBI, Israel, Japan]
Terrinoni A.,
Candi E.,
Oddi S.,
Gobello T.,
Camaione D.B.,
Mazzanti C.,
Zambruno G.,
Knight R.,
Melino G.;
"A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.";
J. Invest. Dermatol. 114:388-391(2000).
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[8]
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VARIANT WSN LYS-449.
DOI=10.1046/j.1365-2133.2003.05337.x; PubMed=12828738 [NCBI, ExPASy, EBI, Israel, Japan]
Chao S.C.,
Tsai Y.M.,
Yang M.H.,
Lee Jy J.Y.;
"A novel mutation in the keratin 4 gene causing white sponge naevus.";
Br. J. Dermatol. 148:1125-1128(2003).
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- SUBUNIT: Heterotetramer of two type I and two type II keratins. Keratin-4 is generally associated with keratin-13.
- TISSUE SPECIFICITY: Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix, vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the esophageal submucosa (at protein level). Expressed widely in the exocervix and esophageal epithelium, with lowest levels detected in the basal cell layer.
- POLYMORPHISM: Three alleles of K4 are known: K4A2 (shown here), K4A1 and K4B.
- DISEASE: Defects in KRT4 are a cause of white sponge nevus of cannon (WSN) [MIM:193900]. WSN is a rare autosomal dominant disorder which predominantly affects non-cornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.
- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
- SIMILARITY: Belongs to the intermediate filament family.
- WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=KRT4";.
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