rs753029185
This variant is located in the KRT5 gene.
▶ClinVar annotation
not provided; Inborn genetic diseases
View on ClinVar →About KRT5
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. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
View all KRT5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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