KRT25 Gene

Last updated on: 24.12.2021

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Definition
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The KRT25 gene (KRT25 stands for keratin 25) is a protein-coding gene located on chromosome 17q21.2. KRT25encodes a member of the type I keratin family (type I keratins differed from type II keratins by size (40-57.5 kDa/ 53-67kDa) and charge (type I collagens =acidic/type II collagens = basic-neutral). Keratins are heteropolymeric structural proteins that essentially form the intermediate filaments, i.e. cytoskeletal structures together with actin microfilaments and microtubules form the cytoskeleton of epithelial cells. The type I keratin genes are located in a region of chromosome 17q12-q21.

General information
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Diseases associated with KRT25 include autosomal recessive frizz (woolly hair) (Ansar M et al. 2015). Related metabolic pathways include developmental biology and keratinization. An important paralog of this gene is KRT27.

Literature
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  1. Ansar M et al. (2015) A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 52: 676-680
  2. Hesse M et al (2004) Comprehensive analysis of keratin gene clusters in humans and rodents. Europ J Cell Biol 83: 19-26
  3. Langbein L et al. (2006) K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) represent the type I inner root sheath keratins of the human hair follicle. J Invest Derm 126: 2377-2386
  4. Schweizer J et al (2006) New consensus nomenclature for mammalian keratins. J Cell Biol 174: 169-174

Outgoing links (1)

Wooly hair ;

Last updated on: 24.12.2021