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Steatocystoma multiplex, KRT17 whole gene NGS
Call to order - 01707 707 560.
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Description
The KRT17 gene encodes the keratin 17 or K17. Keratin 17 is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet and in the sebaceous glands. Keratin 17 partners with a similar protein, keratin 6b, to form keratin intermediate filaments. These filaments assemble into dense networks that provide strength to the skin, nails, and other tissues, protecting these tissues from being damaged by everyday physical stresses. Keratin 17 is also among several keratins involved in wound healing. Mutations in this gene are associated with two skin disorders: pachyonychia congenita type 2 (Smith et al., 2001) and steatocystoma multiplex (Kamra et al., 2013).
Additional information
Samples | EDTA |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Genes / Chromosomes / SNPs | KRT17 |
Related diseases | |Pachyonychia congenita type 2|Steatocystoma multiplex |