KRT14

KRT14

A gene on chromosome 17q12-q21 that encodes a type-I intermediate filament keratin, which typically forms a heterotetramer with KRT5 (type-II) keratins that together form the cytoskeleton of epithelial cells.

Molecular pathology
KRT14 mutations are associated with epidermolysis bullosa simplex.
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References in periodicals archive ?
Se estudiaron 31 genes de queratina reportados para ovinos, cabras y humanos entre los cuales tenemos 12 genes del epitelio de tipo I (KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT18, KRT19, KRT20 y KRT25), 13 genes del epitelio de tipo II (KRT1, KRT2, KRT3, KRT4, KRT5, KRT6a, KRT6b, KRT6c, KRT7, KRT8, KRT71, KRT79 y KRT80), 3 genes de la fibra de tipo I (KRT31, KRT32 y KRT40) y 3 genes de la fibra de tipo II (KRT81, KRT82 y KRT83) (Zhidong et al.
A small subset of basal cells (<1/5) expressing Krt14 has been shown to have a couple of functions, including maintenance of the [Krt5.sup.+] population of basal cells, regeneration of the ciliated and secretory cells, and rapid upregulation post injury.
ACOT2 CFD GCSH LACTB RASSF2 ACY1 CITED2 GJA4 LRP8 RSAD2 ADAMTS9 CRYAB GSTP1 LRRC58 RUNX2 ALCAM CTGF HACD4 NFKB1 SLC26A7 ANKRD9 CXCL1 HSD17B1 NR3C2 SMIM22 ARHGAP22 DGAT2 IGFBP5 NRIP3 SPARC BHLHE40 EGR1 IGFBP7 NUP107 STS BRAF EIF4E IRGQ OPRK1 TAZ CAMK1G ENPP1 JUN OSTALPHA TEKT4 CAMKK2 F10 KCNJ15 PBLD TG CD47 FAM13A KCNJ16 POMT1 TMEM140 CDA FGFR2 KCNK1 PRR5L TRIB1 CDH16 FOXE1 KRT14 RAB17 WBP2 CDH16 GALK2 KRT7 RASL10A WNT4
Results showed that POU domain, class 4, transcription factor 1 (POU4F1: CCT3, MLLT10, MGA, KRT14, and FLNA) and POU5F1 (RIT2) are the most significantly (p = 0.01671 and 0.04158, resp.) enriched TF.
The composition excludes materials that complex with the artichoke leaf extract and the carob fruit extract, and wherein the artichoke leaf extract and the carob fruit extract are present at an amount to provide a synergistic increase in the up-regulation of at least one epidermal-associated gene selected from the group consisting of KRT2, KRT6A, CLDN1, LOR, FLG, IVL, KRT10, AQP3, and KRT14 according to an ex vivo tissue analysis.
This disorder shares an autosomal dominant mutation in the KRT14 gene located on chromosome 17q11.2-q21 with Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) and can be caused by either frameshift or nonsense mutations [65,67].
In the first case study we end up with the marker genes for (i) the proliferation activity composed of 12 genes, CDC20, TK1, KNL1, CENPE, STIL, ANLN, NDC1, NUF2, KIF20A, PLK4, CCNB1, and CCNA2, and (ii) the quiescence state composed of 12 genes: COL5A1, TGFBI, TCEA2, WNT9A, MMP11, LAMB1, KRT14, LTBP1, PHLDB1, TIMP3, LRP1, and COL18A1.
Naegeli Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet.
CHEN ET AL/NATURE BIOTECHNOLOGY 2010 Number of Mutated resistant Disease gene people Cystic fibrosis CFTR 3 (lung disease) Smith-Lemli-Opitz DHCR7 2 syndrome (developmental disorder) Familial IKBKAP 1 dysautonomia (neurological disease) Epidermolysis KRT14 1 bullosa simplex (skin condition) Pfeiffer syndrome FGFR1 1 (bone disorder) APECED AIRE 1 (autoimmune disease) Acampomelic SOX9 1 campomelic dysplasia (bone disorder) Atelosteogenesis SLC26A2 3 (bone disorder)
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet 2006;79:724-30.
The three major clinical subtypes are all caused by mutations in either the keratin 5 (KRT5) or keratin 14(KRT14) gene,(2,3)