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Keratin 14

keratin 14
Identifiers
Symbol	KRT14
Alt. Symbols	EBS3, EBS4
Entrez	3861
HUGO	6416
OMIM	148066
RefSeq	NM_000526
UniProt	P02533
Other data
Locus	Chr. 17 q12-q21

Keratin 14 is a type I cytokeratin. It is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells.

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Pathology

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathy Pigmentosa Reticularis, both of which are autosomal dominant mutations ^[1].

v • d • e Protein: fibrous proteins
Collagen	Type-I (COL1A1) - Type-II (COL2A1) - Type-III - Type-IV - Type-V - Type XI (COL11A2) - Type-XVII - Type-XVIII
Keratin/Cytokeratin	type I (10, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21), type II (1, 2A, 3, 4, 5, 6A, 7, 8, 9), Hair (Type I, Type II), Beta
other	Elastin - Cytoskeletal

References

^ Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct;79(4):724-30.

Category: Keratins