keratin, type 2 cytoskeletal 6A; cytokeratin-6A; CK 6A; K6a keratin; cytokeratin-6D; CK 6D; allergen hom s 5 (KRT6A, K6A, KRT6D)
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Function
Structure
- type 2 keratin
- heterodimer of a type 1 & a type 2 keratin
- belongs to the intermediate filament family
Expression
- constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue & hair follicle outer root sheath
Pathology
- defects in KRT6A are a cause of pachyonychia congenita-1
- KRT6A causes an allergic reaction in humans; binds to IgE from atopic dermatitis patients; identified as an IgE autoantigen in atopic dermatitis patients with severe skin manifestations
Notes
- there are at least 6 isoforms of human type 2 keratin-6, K6A being the most abundant representing about 77% of all forms found in epithelia
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P02538.html
- ↑ Human intermediate Filament mutation Database http://www.interfil.org
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT6A
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3853