Keratin 6B
| keratin 6B | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | KRT6B | ||||||
| NCBI gene | 3854 | ||||||
| HGNC | 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 is associated with the PC-K6B subtype of pachyonychia congenita.[1][2][3]
References
[edit]- ^ McLean WH, Rugg EL, Lunny DP, et al. (March 1995). "Keratin 16 and keratin 17 mutations cause pachyonychia congenita". Nat. Genet. 9 (3): 273–8. doi:10.1038/ng0395-273. PMID 7539673. S2CID 1873772.
- ^ Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ (July 1995). "Mutation of a type II keratin gene (K6a) in pachyonychia congenita". Nat. Genet. 10 (3): 363–5. doi:10.1038/ng0795-363. PMID 7545493. S2CID 26060130.
- ^ Smith FJ, Jonkman MF, van Goor H, et al. (July 1998). "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2". Hum. Mol. Genet. 7 (7): 1143–8. doi:10.1093/hmg/7.7.1143. PMID 9618173.
External links
[edit]
 | This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it. |