Keratin 6B

KRT6B
Identifiers
Aliases	KRT6B, CK-6B, CK6B, K6B, KRTL1, PC2, PC4, keratin 6B
External IDs	OMIM: 148042; MGI: 1333768; GeneCards: KRT6B
Gene location (Human)
Chr.	Chromosome 12 (human)
End	52,452,146 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	101,588,722 bp
RNA expression pattern
	Top expressed in
	gums; ; gingival epithelium; ; hair follicle; ; skin of thigh; ; skin of arm; ; vulva; ; oral cavity; ; body of tongue; ; mucosa of pharynx; ; nipple;
	Top expressed in
	conjunctival fornix; ; ciliary body; ; corneal stroma; ; cervix; ; retinal pigment epithelium; ; epithelium of lens; ; lip; ; umbilical cord; ; iris; ; sexually immature organism;
	More reference expression data
	n/a
Gene ontology
Molecular function	structural constituent of cytoskeleton; protein binding; structural molecule activity;
Cellular component	keratin filament; extracellular exosome; intermediate filament; cytosol;
Biological process	ectoderm development; cytoskeleton organization; keratinization; cornification;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	3854
	16688
	ENSG00000185479
	ENSMUSG00000023041
	P04259
	Q9Z331; Q3UV11
	NM_005555
	NM_010669
	NP_005546
	NP_034799
	Wikidata
View/Edit Human	View/Edit Mouse

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.^[5]^[6]^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185479 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023041 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.