KRT5


Also found in: Encyclopedia.

KRT5

A gene on chromosome 12q13.13 that encodes a type-II cytokeratin that is specifically co-expressed in the basal layer of the epidermis with family member KRT14.

Molecular pathology
KRT5 mutations are associated with epidermolysis bullosa simplex.
References in periodicals archive ?
Se identificaron un total de 48 PNSs de los cuales 14 PNSs se encuentran distribuidos en 8 genes de queratina de epitelio de tipo I (KRT9, KRT12, KRT13, KRT14, KRT16, KRT18, KRT20, KRT25); 23 PNSs distribuidos en los 8 genes de queratina de epitelio de tipo II (KRT1, KRT3, KRT5, KRT6a, KRT7, KRT8, KRT71, KRT80); 4 PNSs en los genes de queratina de fibra de tipo I (KRT31, KRT32, KIRT40) y 7 PNSs en los genes de queratina de fibra de tipo II (KRT81, KRT82, KRT83).
Los genes KRT80, KRT7, KRT81, KRT83, KRT82, KRT6a, KRT6b, KRT6c, KRT5, KRT71, KRT2, KRT1, KRT3, KRT4, KRT79, KRT8 y KRT18 estan ubicados en el cromosoma 12 q13, 3 q23, 5 q21 de humano, ovino y cabra respectivamente y el scaffold 36 en alpaca.
Asi mismo, en el scaffold 36, los posibles PNSs de los genes KRT80, KRT7, KRT81, KRT83, KRT82 KRT6a, KRT5, KRT71, KRT1, KRT3, KRT8y KRT18, formaron dos haplotipos, 5'CACTAAAGAGCC3' y 5TGTTAGGAGATA3'.
Such tumors are highly proliferating, mostly aneuploid and high-grade and besides expressing the basal keratins (KRT5 and KRT6) often express high levels of EGFR, present complex genomic rearrangements, and often harbor TP53 mutations.
Jonkman, "Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients," American Journal of Medical Genetics, vol.
Schumann et al., "Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype," British Journal of Dermatology, vol.
Bunlar arasinda en EBS, Dowling-Meara otozomal dominant gecisli, KRT5 ve KRT14 mutasyonu vardir.
Epidermolizis bullozanin siniflamasi Tip Bul Mutasyon lokalizasyonu EB simpleks Intraepidermal Intraepidermal KRT5, KRT14, (Epidermolitik) Plectin, [alpha]6[beta]4, Plakofilin 1, dezmoplakin "Junctional" Lamina Intra-Lamina Laminin332, EB lucidolitik lusida [alpha]6[beta]4 Integrin, Tip17 kollajen Distrofik EB Dermolitik Sub-lamina Kollajen 7 densa Kindler Miks Miks Kindlin sendromu Tablo 2.
A recently reported series described the loss of-function mutations in the KRT5 gene (9,10) These data confirm that haplo in sufficiency for K5 engenders an excess of unpaired, soluble K14 that is then responsible for DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within the basal keratinocytes in epidermal pigment biology.
(12.) Bonifas JM, Bare JW, Lynch ED, Lebo RV, Epstein EH., Jr Regional assignment of the human keratin 5 (KRT5) gene to chromosome 12q near D12S14 by PCR analysis of somatic cell hybrids and multicolor in situ hybridization.
The 24 genes included previously identified SCC-specific genes such as KRT5, KRT6, TP63, DSC3, and KRT14 [16, 25, 26].
Moreover, other putative markers can be used to isolate SG stem/progenitor cells including KRT5 (Cytokeratin 5), CD49f, CD29 (Itga1), CD133 (Prom1), Sca1, CD44, CD34, CD90 (Thy1), CD105, CD9, and CD81, but only few populations were proven to actively restore damaged glands [11, 42-45].