Keratin 6B


Keratin 6B

protein
Name = keratin 6B
caption =


width =
HGNCid = 6444
Symbol = KRT6B
AltSymbols =
EntrezGene = 3854
OMIM = 148042
RefSeq = NM_005555
UniProt = P04259
PDB =
ECnumber =
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 has been associated with the PC2 variant of pachyonychia congenita where affected individuals may develop more skin cysts than the PC1 type [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] .] [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] .] [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] .] .

References


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Keratin 14 — Identifiers Symbols KRT14; CK14; EBS3; EBS4; K14; NFJ External IDs OMIM …   Wikipedia

  • Keratin 10 — Identifiers Symbols KRT10; BCIE; BIE; CK10; EHK; K10; KPP External IDs OM …   Wikipedia

  • Keratin 19 — Identifiers Symbols KRT19; CK19; K19; K1CS; MGC15366 External IDs OMIM …   Wikipedia

  • Keratin 18 — Identifiers Symbols KRT18; CYK18; K18 External IDs OMIM …   Wikipedia

  • Keratin 5 — is a keratin protein often paired with keratin 14. PBB Summary section title = summary text = The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are… …   Wikipedia

  • Keratin 8 — Identifiers Symbols KRT8; CARD2; CK8; CYK8; K2C8; K8; KO External IDs OMIM …   Wikipedia

  • Keratin 1 — is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform… …   Wikipedia

  • Keratin 7 — Identifiers Symbols KRT7; CK7; K2C7; K7; MGC129731; MGC3625; SCL External IDs …   Wikipedia

  • Keratin 17 — Keratin 17, also known as KRT17, is a human gene.cite web | title = Entrez Gene: KRT17 keratin 17| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=3872| accessdate = ] Keratin 17 is a type I cytokeratin. It… …   Wikipedia

  • Keratin 4 — Identifiers Symbols KRT4; CK 4; CK4; CYK4; FLJ31692; K4 External IDs OMIM …   Wikipedia

  • Keratin 13 — Identifiers Symbols KRT13; CK13; K13; MGC161462; MGC3781 External IDs OMI …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.