Description
Product Characteristics:
Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.
Subcellular location: Cytoplasm, Nucleus, Cell membrane
Synonyms: BIE, EHK, K10, KPP, BCIE, CK10, Keratin, type I cytoskeletal 10, Cytokeratin-10, CK-10, Keratin-10, KRT10
Target Information: 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]