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Homo sapiens loricrin (LOR), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000427 Homo sapiens loricrin (LOR), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000427.2, 109255250
Length 1229 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens loricrin (LOR), mRNA.
Product loricrin
Comment

Summary: This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008].


Sequence Note: Two alleles are present in unaffected individuals. The RefSeq record represents the allele present in the reference genome.

RefSeq NP_000418.2
CDS 55..993
Misc Feature(1)639
Exon (1)1..31
Gene:LOR
Gene Synonym:LOR
Exon (2)32..1229
Gene:LOR
Gene Synonym:LOR
Translation MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYS GGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGG SSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSG GGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTSCAPQPSYGGGSSGGGGSGGSGC FSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGGGGGSSVGGSGSGKGVPICHQ TQQKQAPTWPSK
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Position Chain Variation Link
117..118+dbSNP:
117..118+, ggcggtdbSNP:150026164
120..121+, cggtggdbSNP:67787963
134+, tggcggdbSNP:79432396
139+a, gdbSNP:6661601
207+c, tdbSNP:1143389
330+a, cdbSNP:1143390
562+c, tdbSNP:79326926
564+a, cdbSNP:111660507
620..621+, ctctggcggcggdbSNP:11275959
621..622+, ctctggcggcggdbSNP:66779360
628..629+, ggcggctctggcdbSNP:71695197
639..640+, ggcggctctggcdbSNP:11272549
640+g, tdbSNP:142603426
708+c, gdbSNP:77162859
908+c, tdbSNP:56816110
924+a, gdbSNP:12043009
928+a, gdbSNP:201890491
996+a, cdbSNP:190451624
1026+a, gdbSNP:139894582
1032+a, gdbSNP:181394062
1132+c, tdbSNP:139020547
1169..1170+, tcdbSNP:148857905
Gene SymbolLOR
Gene SynonymLOR
Chromosome1
Locus Map1q21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000427 Homo sapiens loricrin (LOR), mRNA. On-demand TBD TBD
Title Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia .
Author Wei,S., Zhou,Y., Zhang,T.D., Huang,Z.M., Zhang,X.B., Zhu,H.L., Liang,B.H., Lin,L. and Deng,L.
Journal Clin. Exp. Dermatol. 36 (4), 399-405 (2011)
Title mRNA-based skin identification for forensic applications .
Author Visser,M., Zubakov,D., Ballantyne,K.N. and Kayser,M.
Journal Int. J. Legal Med. 125 (2), 253-263 (2011)
Title Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma .
Author Yoneda,K., Demitsu,T., Nakai,K., Moriue,T., Ogawa,W., Igarashi,J., Kosaka,H. and Kubota,Y.
Journal J. Biol. Chem. 285 (21), 16184-16194 (2010)
Title Protein kinase C delta and eta differently regulate the expression of loricrin and Jun family proteins in human keratinocytes .
Author Kamioka,N., Akahane,T., Kohno,Y., Kuroki,T., Iijima,M., Honma,I. and Ohba,M.
Journal Biochem. Biophys. Res. Commun. 394 (1), 106-111 (2010)
Title Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia .
Author Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
Journal PLoS ONE 5 (7), E11493 (2010)
Title Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein .
Author Candi,E., Melino,G., Mei,G., Tarcsa,E., Chung,S.I., Marekov,L.N. and Steinert,P.M.
Journal J. Biol. Chem. 270 (44), 26382-26390 (1995)
Title Overexpression of human loricrin in transgenic mice produces a normal phenotype .
Author Yoneda,K. and Steinert,P.M.
Journal Proc. Natl. Acad. Sci. U.S.A. 90 (22), 10754-10758 (1993)
Title Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia .
Author Ishida-Yamamoto,A., Hohl,D., Roop,D.R., Iizuka,H. and Eady,R.A.
Journal Arch. Dermatol. Res. 285 (8), 491-498 (1993)
Title The human loricrin gene .
Author Yoneda,K., Hohl,D., McBride,O.W., Wang,M., Cehrs,K.U., Idler,W.W. and Steinert,P.M.
Journal J. Biol. Chem. 267 (25), 18060-18066 (1992)
Title Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins .
Author Hohl,D., Mehrel,T., Lichti,U., Turner,M.L., Roop,D.R. and Steinert,P.M.
Journal J. Biol. Chem. 266 (10), 6626-6636 (1991)


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