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Rabbit Anti-Cytokeratin 9/FITC Conjugated antibody
background:
This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]
Function:
May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.
Tissue Specificity:
Expressed in the terminally differentiated epidermis of palms and soles.
DISEASE:
Defects in KRT9 are a cause of palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]; also abbreviated as EHPPK. EPPK is a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present with knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.
Similarity:
Belongs to the intermediate filament family.
Database links:
Entrez Gene: 3857 Human
Omim: 607606 Human
SwissProt: P35527 Human
Unigene: 654569 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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