background:
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 arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin(KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq].
Subunit:
Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP.
Tissue Specificity:
Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
DISEASE:
Defects in KRT6A are a cause of pachyonychia congenital type 1 (PC1) [MIM:161440]; also known as Jadassohn-Lewandowsky syndrome. PC1 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.
Similarity:
Belongs to the intermediate filament family.
Database links:
Entrez Gene: 286887 Human
Entrez Gene: 3853 Human
Entrez Gene: 3854 Human
Entrez Gene: 16687 Mouse
Entrez Gene: 16688 Mouse
Omim: 29641 Human
Omim: 29642 Human
Omim: 612315 Human
SwissProt: P02538 Human
SwissProt: P04259 Human
SwissProt: P48668 Human
SwissProt: P50446 Mouse
SwissProt: Q9Z331 Mouse
Unigene: 700779 Human
Unigene: 709234 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
结构蛋白(Structural Proteins)细胞角蛋白是一类与结构相关的蛋白家族,其在上皮细胞中形成细胞骨架中间丝。CK6表达于鳞状上皮细胞,特别是增生的鳞状上皮。76%的脑、颈部鳞状细胞癌病例中有CK6的表达。
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