KRT17

KRT17

A gene on chromosome 17q21.2 that encodes a type-I keratin, an intermediate filament protein that provides the structural integrity of epithelial cells, and is expressed in nail bed, hair follicle, sebaceous glands and other epidermal appendages.

Molecular pathology
KRT17 mutations are associated with pachyonychia congenita (Jackson-Lawler type) and steatocystoma multiplex.
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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.
El analisis comparativo de secuencias genicas entre las cuatro especies estudiadas, indico que los genes KRT25, KRT10, KRT12, KRT20, KRT40, KRT31, KRT32, KRT13, KRT15, KRT19, KRT9, KRT14, KRT16 y KRT17 estan ubicados en el cromosoma 17, 11 y 19 de humano, ovino y cabra respectivamente; y en alpaca se encuentran en el scaffold 188 y 450 (Fig.
De los 31 genes, en 9 genes (KRT10, KRT15, KRT17, KRT19, KRT2, KRT4, KRT6b, KRT6c y KRT79) no se pudo identificar ningun PNS exonico o intronico.
This condition is autosomal dominant and is linked to defects in KRT17 gene, which instructs the production of keratin 17.
There is little data about abnormal Krt6 expression and its consequences on wound healing; however, Wong and coworkers demonstrated that, contrary to what is expected, cultured keratinocytes from null Krt6 mice exhibited enhanced reepithelization in in vitro assays [24], and wound closure in embryonic mouse skin is significantly delayed only in Krt17 null embryos, but not Krt6 null embryos [13].
It is caused by mutations in keratin genes KRT6a, KRT6b, KRT6c, KRT16, KRT17. We report a 12-year-old female patient presenting with thickened, discolored nails, palmoplantar keratoderma, and follicular papules all over the body.
KRT6a, KRT6b, KRT6c, KRT16 and KRT17 expressed in the nail bed, palmoplantar skin, pilosebaceous unit and oral mucosa.4 Two main subtypes of PC are: 1) Jadassohn- Lewandowsky PC type 1 (PC-1) and, 2) Jackson- Lawler PC type 2 (PC-2).
PC is caused due to keratin gene mutations involving KRT6a, KRT6b, KRT6c, KRT16, KRT17.8 Based on these mutations, two major subtypes have been described:
The level of mRNA expression in 8 (EGR1, p21, KRT17, PIM1, S100P, TNFRSF, WFDC2, and TRIM29) of 91 cancer-associated genes (9%) increased at least 2-fold, even though the RNA quality measured by the 28S to 18S ratio was not affected.
Pachyonychia congenita (PC) comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome).