Keratin 6B: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
imported>Sprinkledonut
(updated classification of pachyonychia congenita)
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
{{protein
{{infobox protein
| Name = keratin 6B
| Name = keratin 6B
| caption =  
| caption =  
Line 18: Line 18:
| LocusSupplementaryData = -q21
| LocusSupplementaryData = -q21
}}
}}
'''Keratin 6B''' is a type II cyto[[keratin]], one of a number of [[isoform]]s 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 [[nail (anatomy)|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<ref>McLean WHI et al. (1995) Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics 9:273-278. Abstract available here[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=7539673&query_hl=8&itool=pubmed_docsum].</ref><ref>Bowden PE et al. (1995) Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nature Genetics 10:363-365. Abstract available here[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=7545493&query_hl=10&itool=pubmed_docsum].</ref><ref>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[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=9618173&query_hl=12&itool=pubmed_docsum].</ref>.
'''Keratin 6B''' is a type II cyto[[keratin]], one of a number of [[isoform]]s 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 [[nail (anatomy)|nails]], the [[Epidermis (skin)|epidermis]] of the palms and soles, and oral [[epithelia]].  Keratin 6B is associated with the PC-K6B subtype of [[pachyonychia congenita]].<ref>{{cite journal  |vauthors=McLean WH, Rugg EL, Lunny DP, etal |title=Keratin 16 and keratin 17 mutations cause pachyonychia congenita |journal=Nat. Genet. |volume=9 |issue=3 |pages=273–8 |date=March 1995 |pmid=7539673 |doi=10.1038/ng0395-273}}</ref><ref>{{cite journal |vauthors=Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ |title=Mutation of a type II keratin gene (K6a) in pachyonychia congenita |journal=Nat. Genet. |volume=10 |issue=3 |pages=363–5 |date=July 1995 |pmid=7545493 |doi=10.1038/ng0795-363}}</ref><ref>{{cite journal |doi=10.1093/hmg/7.7.1143  |vauthors=Smith FJ, Jonkman MF, van Goor H, etal |title=A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2 |journal=Hum. Mol. Genet. |volume=7 |issue=7 |pages=1143–8 |date=July 1998 |pmid=9618173 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9618173}}</ref>
 


==References==
==References==
{{reflist}}


{{reflist|2}}
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pc  GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita]


{{Fibrous proteins}}
{{Cytoskeletal proteins}}


[[Category:Keratins]]
[[Category:Keratins]]




{{protein-stub}}
{{gene-12-stub}}
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 21:57, 5 August 2018

keratin 6B
Identifiers
SymbolKRT6B
Entrez3854
HUGO6444
OMIM148042
RefSeqNM_005555
UniProtP04259
Other data
LocusChr. 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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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


Retrieved from "https://www.wikidoc.org/index.php?title=Keratin_6B&oldid=1528357"