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KRT86

Summary

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.[5][6][7]

KRT86
Identifiers
AliasesKRT86, HB6, Hb1, KRTHB1, KRTHB6, MNX, hHb6, K86, keratin 86
External IDsOMIM: 601928 MGI: 109362 HomoloGene: 1717 GeneCards: KRT86
Orthologs
SpeciesHumanMouse
Entrez

3892

16679

Ensembl

ENSG00000170442

ENSMUSG00000067614

UniProt

O43790

P97861

RefSeq (mRNA)

NM_002284
NM_001320198

NM_010667

RefSeq (protein)

NP_001307127

NP_034797

Location (UCSC)Chr 12: 52.25 – 52.31 MbChr 15: 101.37 – 101.38 Mb
PubMed search[3][4]
Wikidata
View/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170442 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067614 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: KRT86 keratin 86".

Further reading edit

  • 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. 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.