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词条 KRT86
释义

  1. References

  2. Further reading

{{Infobox_gene}}Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.[1][2][3]{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix.[3]
}}

References

1. ^{{cite journal |vauthors=Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J | title = Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix | journal = Nat Genet | volume = 16 | issue = 4 | pages = 372–4 |date=Aug 1997 | pmid = 9241275 | pmc = | doi = 10.1038/ng0897-372 }}
2. ^{{cite journal |vauthors=Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW | title = New consensus nomenclature for mammalian keratins | journal = J Cell Biol | volume = 174 | issue = 2 | pages = 169–74 |date=Jul 2006 | pmid = 16831889 | pmc = 2064177 | doi = 10.1083/jcb.200603161 }}
3. ^{{cite web | title = Entrez Gene: KRT86 keratin 86| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3892| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=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 |vauthors=Rogers MA, Nischt R, Korge B, etal |title=Sequence data and chromosomal localization of human type I and type II hair keratin genes |journal=Exp. Cell Res. |volume=220 |issue= 2 |pages= 357–62 |year= 1995 |pmid= 7556444 |doi= 10.1006/excr.1995.1326 }}
  • {{cite journal |vauthors=Rogers MA, Langbein L, Praetzel S, etal |title=Sequences and differential expression of three novel human type-II hair keratins |journal=Differentiation |volume=61 |issue= 3 |pages= 187–94 |year= 1997 |pmid= 9084137 |doi=10.1046/j.1432-0436.1997.6130187.x }}
  • {{cite journal |vauthors=Winter H, Rogers MA, Gebhardt M, etal |title=A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix |journal=Hum. Genet. |volume=101 |issue= 2 |pages= 165–9 |year= 1998 |pmid= 9402962 |doi=10.1007/s004390050607 }}
  • {{cite journal |vauthors=Bowden PE, Hainey SD, Parker G, etal |title=Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle |journal=J. Invest. Dermatol. |volume=110 |issue= 2 |pages= 158–64 |year= 1998 |pmid= 9457912 |doi= 10.1046/j.1523-1747.1998.00097.x }}
  • {{cite journal |vauthors=Winter H, Clark RD, Tarras-Wahlberg C, etal |title=Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6 |journal=J. Invest. Dermatol. |volume=113 |issue= 2 |pages= 263–6 |year= 1999 |pmid= 10469314 |doi= 10.1046/j.1523-1747.1999.00685.x }}
  • {{cite journal |vauthors=Korge BP, Hamm H, Jury CS, etal |title=Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype |journal=J. Invest. Dermatol. |volume=113 |issue= 4 |pages= 607–12 |year= 1999 |pmid= 10504448 |doi= 10.1046/j.1523-1747.1999.00722.x }}
  • {{cite journal |vauthors=Pearce EG, Smith SK, Lanigan SW, Bowden PE |title=Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix |journal=J. Invest. Dermatol. |volume=113 |issue= 6 |pages= 1123–7 |year= 2000 |pmid= 10594761 |doi= 10.1046/j.1523-1747.1999.00777.x }}
  • {{cite journal |vauthors=Rogers MA, Winter H, Langbein L, etal |title=Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain |journal=J. Invest. Dermatol. |volume=114 |issue= 3 |pages= 464–72 |year= 2000 |pmid= 10692104 |doi= 10.1046/j.1523-1747.2000.00910.x }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
{{refend}}{{Cytoskeletal proteins}}{{protein-stub}}
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