Keratin 6B Explained

keratin 6B
Hgncid:	6444
Symbol:	KRT6B
Entrezgene:	3854
Omim:	148042
Refseq:	NM_005555
Uniprot:	P04259
Chromosome:	12
Arm:	q
Band:	12
Locussupplementarydata:	-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]}

External links

• GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita

Notes and References

1. McLean WH, Rugg EL, Lunny DP, etal . Keratin 16 and keratin 17 mutations cause pachyonychia congenita . Nat. Genet. . 9 . 3 . 273–8 . March 1995 . 7539673 . 10.1038/ng0395-273. 1873772 .
2. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ . Mutation of a type II keratin gene (K6a) in pachyonychia congenita . Nat. Genet. . 10 . 3 . 363–5 . July 1995 . 7545493 . 10.1038/ng0795-363. 26060130 .
3. 10.1093/hmg/7.7.1143 . Smith FJ, Jonkman MF, van Goor H, etal . A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2 . Hum. Mol. Genet. . 7 . 7 . 1143–8 . July 1998 . 9618173 .