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Homo sapiens keratin 86 (KRT86), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_002284 Homo sapiens keratin 86 (KRT86), mRNA. Full Lenth $606.39
ORF Sequence $423.69


RefSeq Version NM_002284.3, 109637786
Length 2091 bp
Structure linear
Update Date 13-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens keratin 86 (KRT86), mRNA.
Product keratin, type II cuticular Hb6
Comment

Summary: 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. [provided by RefSeq].

RefSeq NP_002275.1
CDS 53..1513
Exon (1)1..421
Exon (2)1..421
Exon (3)422..630
Exon (4)631..691
Exon (5)692..787
Exon (6)788..952
Exon (7)953..1078
Exon (8)1079..1299
Exon (9)1300..1331
Exon (10)1332..2091
Translation MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCG RSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAF IDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASEL NHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLR RLYEEEIRVLQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSK CEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAA LSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG VGSVNVCVSSSRGGVVCGDLCASTTAPVVSTRVSSVPSNSNVVVGTTNACAPSARVGVCG GSCKRC
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Position Chain Variation Link
20+a, cdbSNP:56016927
68+c, tdbSNP:117662922
106+c, tdbSNP:74651927
139+c, tdbSNP:112261068
249+a, gdbSNP:57242951
249+a, gdbSNP:35018791
392+a, gdbSNP:61091894
400+a, gdbSNP:58580222
405+a, cdbSNP:60612575
468+a, cdbSNP:58717266
688+a, gdbSNP:79398941
693+a, gdbSNP:56677856
773+c, tdbSNP:111429470
784+a, gdbSNP:78831098
796+c, tdbSNP:58523335
797+a, gdbSNP:61914259
808+c, gdbSNP:61915660
823+c, gdbSNP:112956699
complement(973)-t, cdbSNP:75798653
complement(1050)-g, adbSNP:75304109
complement(1054)-g, adbSNP:2032360
1088+c, tdbSNP:116552599
1096+c, tdbSNP:4761788
1105+c, tdbSNP:28733260
1138+c, tdbSNP:11170086
1154+c, tdbSNP:11170087
1171+c, tdbSNP:11170088
1256+a, gdbSNP:60687604
1289+a, gdbSNP:121909129
1291+g, tdbSNP:121909130
1497+c, gdbSNP:4313620
1559+a, cdbSNP:114008321
1607+a, gdbSNP:2280949
1640+c, tdbSNP:4076515
1777+a, gdbSNP:1137013
1784..1785+, ttdbSNP:111847567
1792..1793+, tdbSNP:3215437
1793..1794+, ttdbSNP:71723842
1794+c, tdbSNP:114386761
1800+a, gdbSNP:1137014
1825+c, tdbSNP:1137015
1871+a, gdbSNP:116249711
2050+a, gdbSNP:115473770
Gene SymbolKRT86
Gene SynonymFLJ25176; Hb1; HB6; hHb6; KRTHB1; KRTHB6; MNX
Chromosome12
Locus Map12q13
All Transcripts NM_002284
Title Mutation E402K of the hHb6 in a Chinese Han family with monilethrix .
Author ZHANG,S.D., MENG,J., ZHAO,J.J. and TIAN,W.
Journal Eur J Dermatol 19 (5), 508-509 (2009)
Title [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix] .
Author Feng,A.P., Liu,P. and Yang,T.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25 (2), 141-144 (2008)
Title hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes .
Author Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M.
Journal Genomics 89 (3), 307-315 (2007)
Title New consensus nomenclature for mammalian keratins .
Author Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B., Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and Wright,M.W.
Journal J. Cell Biol. 174 (2), 169-174 (2006)
Title Keratins of the human hair follicle .
Author Langbein,L. and Schweizer,J.
Journal Int. Rev. Cytol. 243, 1-78 (2005)
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 .
Author Winter,H., Clark,R.D., Tarras-Wahlberg,C., Rogers,M.A. and Schweizer,J.
Journal J. Invest. Dermatol. 113 (2), 263-266 (1999)
Title Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle .
Author Bowden,P.E., Hainey,S.D., Parker,G., Jones,D.O., Zimonjic,D., Popescu,N. and Hodgins,M.B.
Journal J. Invest. Dermatol. 110 (2), 158-164 (1998)
Title A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix .
Author Winter,H., Rogers,M.A., Gebhardt,M., Wollina,U., Boxall,L., Chitayat,D., Babul-Hirji,R., Stevens,H.P., Zlotogorski,A. and Schweizer,J.
Journal Hum. Genet. 101 (2), 165-169 (1997)
Title Sequences and differential expression of three novel human type-II hair keratins .
Author Rogers,M.A., Langbein,L., Praetzel,S., Moll,I., Krieg,T., Winter,H. and Schweizer,J.
Journal Differentiation 61 (3), 187-194 (1997)
Title Sequence data and chromosomal localization of human type I and type .
Author Rogers,M.A., Nischt,R., Korge,B., Krieg,T., Fink,T.M., Lichter,P., Winter,H. and Schweizer,J.
Journal Exp. Cell Res. 220 (2), 357-362 (1995)

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