Biology:Keratin 14
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined.[1] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.[2][3][4]
Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells.
Pathology
Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex[5] and dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.[6]
See also
- 34βE12 (keratin 903)
References
- ↑ "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins". Cell 31 (1): 243–52. November 1982. doi:10.1016/0092-8674(82)90424-X. PMID 6186381. https://zenodo.org/record/890743.
- ↑ "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses". Cell 66 (6): 1301–11. September 1991. doi:10.1016/0092-8674(91)90051-Y. PMID 1717157.
- ↑ "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology 174 (2): 169–74. July 2006. doi:10.1083/jcb.200603161. PMID 16831889.
- ↑ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3861.
- ↑ "Epidermolysis bullosa". Nature Reviews. Disease Primers 6 (1): 78. September 2020. doi:10.1038/s41572-020-0210-0. PMID 32973163.
- ↑ "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". American Journal of Human Genetics 79 (4): 724–30. October 2006. doi:10.1086/507792. PMID 16960809.
Further reading
- "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations". Human Mutation 21 (4): 447. April 2003. doi:10.1002/humu.9124. PMID 12655565.
- "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenetics and Cell Genetics 57 (1): 33–8. 1991. doi:10.1159/000133109. PMID 1713141.
- "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities". Science 254 (5035): 1202–5. November 1991. doi:10.1126/science.1720261. PMID 1720261. Bibcode: 1991Sci...254.1202B.
- "The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines". The Journal of Cell Biology 105 (2): 791–806. August 1987. doi:10.1083/jcb.105.2.791. PMID 2442174.
- "A group of type I keratin genes on human chromosome 17: characterization and expression". Molecular and Cellular Biology 8 (2): 722–36. February 1988. doi:10.1128/mcb.8.2.722. PMID 2451124.
- "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene". Proceedings of the National Academy of Sciences of the United States of America 82 (6): 1609–13. March 1985. doi:10.1073/pnas.82.6.1609. PMID 2580298. Bibcode: 1985PNAS...82.1609M.
- "Remarkable conservation of structure among intermediate filament genes". Cell 39 (3 Pt 2): 491–8. December 1984. doi:10.1016/0092-8674(84)90456-2. PMID 6210150.
- "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function". Nature Genetics 5 (3): 294–300. November 1993. doi:10.1038/ng1193-294. PMID 7506097.
- "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375". Human Molecular Genetics 2 (11): 1971–2. November 1993. doi:10.1093/hmg/2.11.1971. PMID 7506606.
- "A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein". Genes & Development 8 (21): 2574–87. November 1994. doi:10.1101/gad.8.21.2574. PMID 7525408.
- "A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex". Human Molecular Genetics 3 (7): 1171–2. July 1994. doi:10.1093/hmg/3.7.1171. PMID 7526926.
- "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex". Nature Genetics 3 (4): 327–32. April 1993. doi:10.1038/ng0493-327. PMID 7526933.
- "Keratin 14 gene mutations in patients with epidermolysis bullosa simplex". The Journal of Investigative Dermatology 105 (4): 629–32. October 1995. doi:10.1111/1523-1747.ep12323846. PMID 7561171.
- "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex". Human Mutation 2 (1): 37–42. 1993. doi:10.1002/humu.1380020107. PMID 7682883.
- "A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis". The Journal of Investigative Dermatology 101 (2): 240–3. August 1993. doi:10.1111/1523-1747.ep12365079. PMID 7688405.
- "Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex". The Journal of Investigative Dermatology 106 (2): 327–34. February 1996. doi:10.1111/1523-1747.ep12342985. PMID 8601736.
- "Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16". The Journal of Cell Biology 132 (3): 381–97. February 1996. doi:10.1083/jcb.132.3.381. PMID 8636216.
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