keratin, type 2 cytoskeletal 6B; cytokeratin-6B; CK 6B; K6b keratin; keratin 6F (KRT6B, K6B, KRTL1, CK6F, K6F)
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Function
Structure
- heterodimer of a type 1 & a type 2 keratin
- belongs to the intermediate filament family
Expression
- constitutively expressed in distinct types of epithelia including those in oral mucosa, esophagus, papillae of tongue & hair follicle outer root sheath
Pathology
- defects in KRT6B are a cause of pachyonychia congenita-2
Notes
there are at least 6 isoforms of human type 2 keratin-6
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P04259.html
- ↑ Human intermediate Filament mutation Database http://www.interfil.org
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT6B
- ↑ OMIM https://mirror.omim.org/entry/148042
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3854