KRT86
| Keratin 86, type II | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | KRT86 ; HB6; Hb1; KRTHB1; KRTHB6; MNX; hHb6 | ||||||||||||
| External IDs | OMIM: 601928 MGI: 3690448 HomoloGene: 1717 GeneCards: KRT86 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 3892 | 16679 | |||||||||||
| Ensembl | ENSG00000170442 | ENSMUSG00000067614 | |||||||||||
| UniProt | O43790 | P97861 | |||||||||||
| RefSeq (mRNA) | NM_002284 | NM_010667 | |||||||||||
| RefSeq (protein) | NP_002275 | NP_034797 | |||||||||||
| Location (UCSC) |
Chr 12: 52.25 – 52.31 Mb |
Chr 15: 101.47 – 101.48 Mb | |||||||||||
| PubMed search | |||||||||||||
Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.[1][2][3]
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
- ↑ 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.
- ↑ 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.
- 1 2 "Entrez Gene: KRT86 keratin 86".
Further reading
- Langbein L, Schweizer J (2005). "Keratins of the human hair follicle". Int. Rev. Cytol. 243: 1–78. doi:10.1016/S0074-7696(05)43001-6. 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.
- 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. 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.
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