Keratin 6B
| keratin 6B | |
|---|---|
| Identifiers | |
| Symbol | KRT6B |
| Entrez | 3854 |
| HUGO | 6444 |
| OMIM | 148042 |
| RefSeq | NM_005555 |
| UniProt | P04259 |
| Other data | |
| Locus | Chr. 12 q12-q21 |
Keratin 6B is a type II cytokeratin, one of a number of isoforms of keratin 6. It is found with keratin 16 and/or keratin 17 in the hair follicles, the filiform papillae of the tongue and the epithelial lining of oral mucosa and esophagus. This keratin 6 isoform is thought be less abundant than the closely related keratin 6A protein. Mutations in the gene encoding this protein have been associated with pachyonychia congenita, an inherited disorder of the epithelial tissues in which this keratin is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia. Keratin 6B has been associated with the PC2 variant of pachyonychia congenita where affected individuals may develop more skin cysts than the PC1 type[1][2][3].
References
- ↑ McLean WHI et al. (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics 9:273-278. Abstract available here[1].
- ↑ Bowden PE et al. (1995) Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nature Genetics 10:363-365. Abstract available here[2].
- ↑ Smith FJD et al. (1998) A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Human Molecular Genetics 7:1143-1148. Abstract available here[3].
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