This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.
Pathway
Transcriptional misregulation in cancer, organism-specific biosystem; Transcriptional misregulation in cancer, conserved biosystem; p38 signaling mediated by MAPKAP kinases, organism-specific biosystem;
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