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Keratin 14 OKDB#: 2457
 Symbols: KRT14 Species: human
 Synonyms: K14  Locus: 17q12-q21 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Hafner M, et al reported that Keratin 14 Cre transgenic mice authenticate keratin 14 as an oocyte-expressed protein. Summary: Three mouse lines expressing Cre recombinase under the control of the human K14 promoter induced specific deletion of loxP flanked target sequences in the epidermis, in tongue, and thymic epithelium of the offspring where the Cre allele was inherited from the father. Where the mother carried the Cre allele, loxP flanked sequences were completely deleted in all tissues of the offspring, even in littermates that did not inherit the Cre allele. This maternally inherited phenotype indicates that the human K14 promoter is transcriptionally active in murine oocytes and that the enzyme remains active until after fertilization, even when the Cre allele becomes transmitted to the polar bodies during meiosis. Detection of K14 mRNA by RT-PCR in murine ovaries and immunohistochemical identification of the K14 protein in oocytes demonstrates that the human K14 promoter behaves like its murine homolog, thus identifying K14 as an authentic oocytic protein.

NCBI Summary: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.
General function Cytoskeleton, Cytoskeleton organization
Comment
Cellular localization Cytoskeleton
Comment
Ovarian function
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Expression regulated by
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Ovarian localization Oocyte
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: April 21, 2004, 2:33 p.m. by: hsueh   email:
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last update: April 21, 2004, 2:35 p.m. by: system    email:



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