Gene Symbol | KRT14 |
Entrez Gene ID | 3861 |
Full Name | keratin 14 |
Synonyms | CK14,EBS3,EBS4,K14,NFJ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3); Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3); Dermatopathia pigmentosa reticularis, 125595 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3) |