Gene Symbol | KRT10 |
Entrez Gene ID | 3858 |
Full Name | keratin 10 |
Synonyms | BCIE,BIE,CK10,EHK,K10,KPP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3); Ichthyosis with confetti, 609165 (3) |