keratin, type 1 cytoskeletal 9; cytokeratin-9; CK-9; keratin-9; K9 (KRT9)
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Function
- may serve a function either in mature palmar & plantar skin tissue or in the development of these tissues
- role in keratin filament assembly
Structure
- heterotetramer of 2 type 1 & 2 type 2 keratins
- belongs to the intermediate filament family
Expression
- expressed in the terminally differentiated epidermis of palms & soles
- induced by intrinsic regulatory mechanisms & by extrinsic signals from a subset of dermal palmoplantar fibroblasts
Pathology
- defects in KRT9 are a cause of palmoplantar keratoderma epidermolytic (EPPK)
- knuckle pads are sometimes associated with EPPK & defects in KRT9
Notes
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P35527.html
- ↑ Human intermediate Filament mutation Database http://www.interfil.org
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT9
- ↑ Dabbs. Diagnostic Immunohistochemistry. Churchill Livingstone 2002. page 167.
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3857
- ↑ 6.0 6.1 Rosen EM et al Human placenta contains an epithelial scatter protein. Biochem Biophys Res Commun. 1990 May 16;168(3):1082-8 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2140676
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3857
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3857
- OMIM: https://mirror.omim.org/entry/144200
- OMIM: https://mirror.omim.org/entry/149100
- OMIM: https://mirror.omim.org/entry/607606
- UniProt: http://www.uniprot.org/uniprot/P35527.html