Keratin 1

Keratin 1 is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.

PBB_Summary
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summary_text = The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.cite web | title = Entrez Gene: KRT1 keratin 1 (epidermolytic hyperkeratosis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3848| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Whittock NV, Ashton GH, Griffiths WA, "et al." |title=New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens |journal=Br. J. Dermatol. |volume=145 |issue= 2 |pages= 330–5 |year= 2001 |pmid= 11531804 |doi= 10.1046/j.1365-2133.2001.04327.x
*cite journal | author=Langbein L, Schweizer J |title=Keratins of the human hair follicle |journal=Int. Rev. Cytol. |volume=243 |issue= |pages= 1–78 |year= 2005 |pmid= 15797458 |doi= 10.1016/S0074-7696(05)43001-6
*cite journal | author=Korge BP, Compton JG, Steinert PM, Mischke D |title=The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain |journal=J. Invest. Dermatol. |volume=99 |issue= 6 |pages= 697–702 |year= 1993 |pmid= 1281859 |doi=
*cite journal | author=Compton JG, DiGiovanna JJ, Santucci SK, "et al." |title=Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q |journal=Nat. Genet. |volume=1 |issue= 4 |pages= 301–5 |year= 1993 |pmid= 1284546 |doi= 10.1038/ng0792-301
*cite journal | author=Rothnagel JA, Dominey AM, Dempsey LD, "et al." |title=Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis |journal=Science |volume=257 |issue= 5073 |pages= 1128–30 |year= 1992 |pmid= 1380725 |doi= 10.1126/science.257.5073.1128
*cite journal | author=Chipev CC, Korge BP, Markova N, "et al." |title=A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis |journal=Cell |volume=70 |issue= 5 |pages= 821–8 |year= 1992 |pmid= 1381288 |doi= 10.1016/0092-8674(92)90315-4
*cite journal | author=Dawson SJ, White LA |title=Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin |journal=J. Infect. |volume=24 |issue= 3 |pages= 317–20 |year= 1992 |pmid= 1602151 |doi= 10.1016/S0163-4453(05)80037-4
*cite journal | author=Mansbridge JN, Hanawalt PC |title=Role of transforming growth factor beta in the maturation of human epidermal keratinocytes |journal=J. Invest. Dermatol. |volume=90 |issue= 3 |pages= 336–41 |year= 1988 |pmid= 2450142 |doi= 10.1111/1523-1747.ep12456286
*cite journal | author=Lessin SR, Huebner K, Isobe M, "et al." |title=Chromosomal mapping of human keratin genes: evidence of non-linkage |journal=J. Invest. Dermatol. |volume=91 |issue= 6 |pages= 572–8 |year= 1989 |pmid= 2461420 |doi=
*cite journal | author=Popescu NC, Bowden PE, DiPaolo JA |title=Two type II keratin genes are localized on human chromosome 12 |journal=Hum. Genet. |volume=82 |issue= 2 |pages= 109–12 |year= 1989 |pmid= 2470667 |doi= 10.1007/BF00284039
*cite journal | author=Johnson LD, Idler WW, Zhou XM, "et al." |title=Structure of a gene for the human epidermal 67-kDa keratin |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 7 |pages= 1896–900 |year= 1985 |pmid= 2580302 |doi= 10.1073/pnas.82.7.1896
*cite journal | author=Steinert PM, Parry DA, Idler WW, "et al." |title=Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits |journal=J. Biol. Chem. |volume=260 |issue= 11 |pages= 7142–9 |year= 1985 |pmid= 2581964 |doi=
*cite journal | author=Yang JM, Chipev CC, DiGiovanna JJ, "et al." |title=Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis |journal=J. Invest. Dermatol. |volume=102 |issue= 1 |pages= 17–23 |year= 1994 |pmid= 7507151 |doi= 10.1111/1523-1747.ep12371725
*cite journal | author=McLean WH, Eady RA, Dopping-Hepenstal PJ, "et al." |title=Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE) |journal=J. Invest. Dermatol. |volume=102 |issue= 1 |pages= 24–30 |year= 1994 |pmid= 7507152 |doi= 10.1111/1523-1747.ep12371726
*cite journal | author=Syder AJ, Yu QC, Paller AS, "et al." |title=Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity |journal=J. Clin. Invest. |volume=93 |issue= 4 |pages= 1533–42 |year= 1994 |pmid= 7512983 |doi= 10.1172/JCI117132
*cite journal | author=Kimonis V, DiGiovanna JJ, Yang JM, "et al." |title=A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma |journal=J. Invest. Dermatol. |volume=103 |issue= 6 |pages= 764–9 |year= 1995 |pmid= 7528239 |doi=
*cite journal | author=Yoon SJ, LeBlanc-Straceski J, Ward D, "et al." |title=Organization of the human keratin type II gene cluster at 12q13 |journal=Genomics |volume=24 |issue= 3 |pages= 502–8 |year= 1995 |pmid= 7536183 |doi= 10.1006/geno.1994.1659
*cite journal | author=Peehl DM, Wong ST, Stamey TA |title=Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells |journal=Prostate |volume=23 |issue= 1 |pages= 69–78 |year= 1993 |pmid= 7687781 |doi= 10.1002/pros.2990230107
*cite journal | author=Senshu T, Kan S, Ogawa H, "et al." |title=Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis |journal=Biochem. Biophys. Res. Commun. |volume=225 |issue= 3 |pages= 712–9 |year= 1996 |pmid= 8780679 |doi= 10.1006/bbrc.1996.1240
*cite journal | author=Steinert PM, Marekov LN |title=Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope |journal=J. Biol. Chem. |volume=272 |issue= 3 |pages= 2021–30 |year= 1997 |pmid= 8999895 |doi=

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