Health Dictionary
Reliable, easy-to-read patient information on common medical conditions â written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Keratin 1
Introduction
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.
This gene, of the keratin family, is formed by type II cytokeratins set in pairs in a heterotypic chain, which are shown throughout the differentiation of epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis. Connections between mutations in the Keratin family and bullous congenital ichthyosiform erythroderma have been made, on account of type II cytokeratins being found clustered in a region of chromosomes 12q12-q13.[1]
References
References
- â “Entrez Gene: KRT1 keratin 1 (epidermolytic hyperkeratosis)”.
- â Meng, J J; Bornslaeger E A; Green K J; Steinert P M; Ip W (Aug 1997). “Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments”. J. Biol. Chem. UNITED STATES. 272 (34): 21495â503. doi:10.1074/jbc.272.34.21495. ISSNÂ 0021-9258. PMIDÂ 9261168.
- â England, Karen; Ashford David; Kidd Daniel; Rumsby Martin (Jun 2002). “PKC epsilon is associated with myosin IIA and actin in fibroblasts”. Cell. Signal. England. 14 (6): 529â36. doi:10.1016/S0898-6568(01)00277-7. ISSNÂ 0898-6568. PMIDÂ 11897493.
Further reading
Further reading
- Whittock NV, Ashton GH, Griffiths WA, et al. (2001). “New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens”. Br. J. Dermatol. 145 (2): 330â5. doi:10.1046/j.1365-2133.2001.04327.x. PMIDÂ 11531804.
- Langbein L, Schweizer J (2005). “Keratins of the human hair follicle”. Int. Rev. Cytol. 243: 1â78. doi:10.1016/S0074-7696(05)43001-6. PMIDÂ 15797458.
- Korge BP, Compton JG, Steinert PM, Mischke D (1993). “The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain”. J. Invest. Dermatol. 99 (6): 697â702. doi:10.1111/1523-1747.ep12614149. PMIDÂ 1281859.
- Compton JG, DiGiovanna JJ, Santucci SK, et al. (1993). “Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q”. Nat. Genet. 1 (4): 301â5. doi:10.1038/ng0792-301. PMIDÂ 1284546.
- Rothnagel JA, Dominey AM, Dempsey LD, et al. (1992). “Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis”. Science. 257 (5073): 1128â30. Bibcode:1992Sci…257.1128R. doi:10.1126/science.257.5073.1128. PMIDÂ 1380725.
- Chipev CC, Korge BP, Markova N, et al. (1992). “A leucine—-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis”. Cell. 70 (5): 821â8. doi:10.1016/0092-8674(92)90315-4. PMIDÂ 1381288.
- Dawson SJ, White LA (1992). “Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin”. J. Infect. 24 (3): 317â20. doi:10.1016/S0163-4453(05)80037-4. PMIDÂ 1602151.
- Mansbridge JN, Hanawalt PC (1988). “Role of transforming growth factor beta in the maturation of human epidermal keratinocytes”. J. Invest. Dermatol. 90 (3): 336â41. doi:10.1111/1523-1747.ep12456286. PMIDÂ 2450142.
- Lessin SR, Huebner K, Isobe M, et al. (1989). “Chromosomal mapping of human keratin genes: evidence of non-linkage”. J. Invest. Dermatol. 91 (6): 572â8. doi:10.1111/1523-1747.ep12477087. PMIDÂ 2461420.
- Popescu NC, Bowden PE, DiPaolo JA (1989). “Two type II keratin genes are localized on human chromosome 12”. Hum. Genet. 82 (2): 109â12. doi:10.1007/BF00284039. PMIDÂ 2470667.
- Johnson LD, Idler WW, Zhou XM, et al. (1985). “Structure of a gene for the human epidermal 67-kDa keratin”. Proc. Natl. Acad. Sci. U.S.A. 82 (7): 1896â900. Bibcode:1985PNAS…82.1896J. doi:10.1073/pnas.82.7.1896. PMCÂ 397440. PMIDÂ 2580302.
- Steinert PM, Parry DA, Idler WW, et al. (1985). “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”. J. Biol. Chem. 260 (11): 7142â9. PMIDÂ 2581964.
- Yang JM, Chipev CC, DiGiovanna JJ, et al. (1994). “Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis”. J. Invest. Dermatol. 102 (1): 17â23. doi:10.1111/1523-1747.ep12371725. PMIDÂ 7507151.
- McLean WH, Eady RA, Dopping-Hepenstal PJ, et al. (1994). “Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)”. J. Invest. Dermatol. 102 (1): 24â30. doi:10.1111/1523-1747.ep12371726. PMIDÂ 7507152.
- Syder AJ, Yu QC, Paller AS, et al. (1994). “Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity”. J. Clin. Invest. 93 (4): 1533â42. doi:10.1172/JCI117132. PMCÂ 294170. PMIDÂ 7512983.
- Kimonis V, DiGiovanna JJ, Yang JM, et al. (1995). “A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma”. J. Invest. Dermatol. 103 (6): 764â9. doi:10.1111/1523-1747.ep12412771. PMIDÂ 7528239.
- Yoon SJ, LeBlanc-Straceski J, Ward D, et al. (1995). “Organization of the human keratin type II gene cluster at 12q13”. Genomics. 24 (3): 502â8. doi:10.1006/geno.1994.1659. PMIDÂ 7536183.
- Peehl DM, Wong ST, Stamey TA (1993). “Vitamin A regulates proliferation and differentiation of human prostatic epithelial cells”. Prostate. 23 (1): 69â78. doi:10.1002/pros.2990230107. PMIDÂ 7687781.
- Senshu T, Kan S, Ogawa H, et al. (1996). “Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis”. Biochem. Biophys. Res. Commun. 225 (3): 712â9. doi:10.1006/bbrc.1996.1240. PMIDÂ 8780679.
- Steinert PM, Marekov LN (1997). “Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope”. J. Biol. Chem. 272 (3): 2021â30. doi:10.1074/jbc.272.3.2021. PMIDÂ 8999895.