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.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000170442 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000067614 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J (Aug 1997). "Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix". Nat Genet. 16 (4): 372–4. doi:10.1038/ng0897-372. PMID 9241275. S2CID 25352502.
^Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC2064177. PMID 16831889.
Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". Int. Rev. Cytol. International Review of Cytology. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. ISBN9780123646477. PMID 15797458.
Rogers MA, Nischt R, Korge B, et al. (1995). "Sequence data and chromosomal localization of human type I and type II hair keratin genes". Exp. Cell Res. 220 (2): 357–62. doi:10.1006/excr.1995.1326. PMID 7556444.
Rogers MA, Langbein L, Praetzel S, et al. (1997). "Sequences and differential expression of three novel human type-II hair keratins". Differentiation. 61 (3): 187–94. doi:10.1046/j.1432-0436.1997.6130187.x. PMID 9084137.
Winter H, Rogers MA, Gebhardt M, et al. (1998). "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix". Hum. Genet. 101 (2): 165–9. doi:10.1007/s004390050607. PMID 9402962. S2CID 20555394.
Bowden PE, Hainey SD, Parker G, et al. (1998). "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle". J. Invest. Dermatol. 110 (2): 158–64. doi:10.1046/j.1523-1747.1998.00097.x. PMID 9457912.
Winter H, Clark RD, Tarras-Wahlberg C, et al. (1999). "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". J. Invest. Dermatol. 113 (2): 263–6. doi:10.1046/j.1523-1747.1999.00685.x. PMID 10469314.
Korge BP, Hamm H, Jury CS, et al. (1999). "Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype". J. Invest. Dermatol. 113 (4): 607–12. doi:10.1046/j.1523-1747.1999.00722.x. PMID 10504448.
Pearce EG, Smith SK, Lanigan SW, Bowden PE (2000). "Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix". J. Invest. Dermatol. 113 (6): 1123–7. doi:10.1046/j.1523-1747.1999.00777.x. PMID 10594761.
Rogers MA, Winter H, Langbein L, et al. (2000). "Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain". J. Invest. Dermatol. 114 (3): 464–72. doi:10.1046/j.1523-1747.2000.00910.x. PMID 10692104.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
This protein-related article is a stub. You can help Wikipedia by expanding it.
krt86, keratin, type, cuticular, protein, that, humans, encoded, gene, identifiersaliases, krthb1, krthb6, hhb6, keratin, 86external, idsomim, 601928, 109362, homologene, 1717, genecards, orthologsgene, location, human, chromosome, human, band12q13, 13start52,. Keratin type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene 5 6 7 KRT86IdentifiersAliasesKRT86 HB6 Hb1 KRTHB1 KRTHB6 MNX hHb6 K86 keratin 86External IDsOMIM 601928 MGI 109362 HomoloGene 1717 GeneCards KRT86 OMA KRT86 orthologsGene location Human Chr Chromosome 12 human 1 Band12q13 13Start52 249 300 bp 1 End52 309 163 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 F2 15 56 9 cMStart101 371 359 bp 2 End101 377 867 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright coronary arteryhair follicleascending aortaamniotic fluidleft coronary arterytibialis anterior muscleleft lobe of thyroid glandbody of pancreasright lobe of thyroid glandminor salivary glandsTop expressed inlipentorhinal cortexskin of backhair follicleskin of abdomendermissexually immature organismmedulla oblongatainferior colliculustrigeminal ganglionMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein binding structural molecule activityCellular componentkeratin filament extracellular exosome intermediate filament extracellular space cytosolBiological processkeratinization cornificationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez389216679EnsemblENSG00000170442ENSMUSG00000067614UniProtO43790P97861RefSeq mRNA NM 002284NM 001320198NM 010667RefSeq protein NP 001307127NP 034797Location UCSC Chr 12 52 25 52 31 MbChr 15 101 37 101 38 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse 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 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000170442 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000067614 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Winter H Rogers MA Langbein L Stevens HP Leigh IM Labreze C Roul S Taieb A Krieg T Schweizer J Aug 1997 Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix Nat Genet 16 4 372 4 doi 10 1038 ng0897 372 PMID 9241275 S2CID 25352502 Schweizer J Bowden PE Coulombe PA Langbein L Lane EB Magin TM Maltais L Omary MB Parry DA Rogers MA Wright MW Jul 2006 New consensus nomenclature for mammalian keratins J Cell Biol 174 2 169 74 doi 10 1083 jcb 200603161 PMC 2064177 PMID 16831889 a b Entrez Gene KRT86 keratin 86 Further reading editLangbein L Schweizer J 2005 Keratins of the human hair follicle Int Rev Cytol International Review of Cytology 243 1 78 doi 10 1016 S0074 7696 05 43001 6 ISBN 9780123646477 PMID 15797458 Rogers MA Nischt R Korge B et al 1995 Sequence data and chromosomal localization of human type I and type II hair keratin genes Exp Cell Res 220 2 357 62 doi 10 1006 excr 1995 1326 PMID 7556444 Rogers MA Langbein L Praetzel S et al 1997 Sequences and differential expression of three novel human type II hair keratins Differentiation 61 3 187 94 doi 10 1046 j 1432 0436 1997 6130187 x PMID 9084137 Winter H Rogers MA Gebhardt M et al 1998 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Hum Genet 101 2 165 9 doi 10 1007 s004390050607 PMID 9402962 S2CID 20555394 Bowden PE Hainey SD Parker G et al 1998 Characterization and chromosomal localization of human hair specific keratin genes and comparative expression during the hair growth cycle J Invest Dermatol 110 2 158 64 doi 10 1046 j 1523 1747 1998 00097 x PMID 9457912 Winter H Clark RD Tarras Wahlberg C et al 1999 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 J Invest Dermatol 113 2 263 6 doi 10 1046 j 1523 1747 1999 00685 x PMID 10469314 Korge BP Hamm H Jury CS et al 1999 Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix implications for protein structure and clinical phenotype J Invest Dermatol 113 4 607 12 doi 10 1046 j 1523 1747 1999 00722 x PMID 10504448 Pearce EG Smith SK Lanigan SW Bowden PE 2000 Two different mutations in the same codon of a type II hair keratin hHb6 in patients with monilethrix J Invest Dermatol 113 6 1123 7 doi 10 1046 j 1523 1747 1999 00777 x PMID 10594761 Rogers MA Winter H Langbein L et al 2000 Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain J Invest Dermatol 114 3 464 72 doi 10 1046 j 1523 1747 2000 00910 x PMID 10692104 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Gerhard DS Wagner L Feingold EA et al 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 nbsp This protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title KRT86 amp oldid 1116757057, wikipedia, wiki, book, books, library,
