| KRT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KRT3, CK3, K3, keratin 3, MECD2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 148043 GeneCards: KRT3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Keratin 3 also known as cytokeratin 3 is a protein that in humans is encoded by the KRT3 gene.[3][4] Keratin 3 is a type II cytokeratin. It is specifically found in the corneal epithelium together with keratin 12.
Mutations in the KRT3 encoding this protein have been associated with Meesmanns Corneal Dystrophy.[5]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000186442 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Raimondi E, Moralli D, De Carli L, Ceratto N, Balzaretti M, Leube R, Collin C, Romano V (1994). "Assignment of the human cytokeratin 3 gene (KRT3) to 12q12-->q13 by FISH". Cytogenet. Cell Genet. 66 (3): 162–3. doi:10.1159/000133690. PMID 7510223.
- ↑ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (July 2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
- ↑ Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH (June 1997). "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy". Nat. Genet. 16 (2): 184–7. doi:10.1038/ng0697-184. PMID 9171831. S2CID 24438634.
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