GeneID: 190



Names

Common Name: KRT80 Type: Gene
Chromosome: 12 (NC_000012.12) Locus: NG_012324.1 (KRT80)
HUGO Symbol: KRT80 Full Name: keratin 80 
Exons: 9 Introns: 8

Description:
The KRT80 gene encodes a type II keratin called KB20. Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. They share a common structural organization consisting of an N-terminal head domain, a central α-helical rod domain and a C-terminal tail domain. The head domain is essential for intermediate filament assembly. Keratins are classified into type I (smaller, acidic) and type II (larger, neutral-to-basic) proteins. Type I keratin genes are located at two loci (17p11–12 and 17q11–22) on chromosome 17, whereas type II keratin genes are located to a single cluster (12q11–13) on chromosome 12. KB20 is expressed in murine lung tissue and oesophagus. A polymorphism in this gene associated with HbF response to hydroxyurea in patients with sickle cell disease, while the cellular mechanism involved is currently unknown.

Synonyms: KB20

Comments:

Sequence Viewer

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Publications / Origin

  1. Hatzfeld M, Burba M, Function of type I and type II keratin head domains: their role in dimer, tetramer and filament formation., J. Cell. Sci. , 107(0), 1959-72, 1994 PubMed
  2. Hesse M, Zimek A, Weber K, Magin TM, Comprehensive analysis of keratin gene clusters in humans and rodents., Eur. J. Cell Biol. , 83(1), 19-26, 2004 PubMed
  3. Rogers MA, Edler L, Winter H, Langbein L, Beckmann I, Schweizer J, Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13., J. Invest. Dermatol. , 124(3), 536-44, 2005 PubMed
  4. Bowden PE, The human type II keratin gene cluster on chromosome 12q13.13: final count or hidden secrets?, J. Invest. Dermatol. , 124(3), xv-xvii, 2005 PubMed
  5. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
Created on 2016-10-18 18:12:08, Last reviewed on (Show full history)


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