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Homo sapiens loricrin (LOR), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19272 Homo sapiens loricrin (LOR), mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu19272C Homo sapiens loricrin (LOR), mRNA. Customized vector On-demand $209.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000427.2, 109255250
Length 939 bp
Structure linear
Update Date 03-MAY-2014
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
39+dbSNP:
39+c, tdbSNP:368463751
50+a, gdbSNP:374381868
66+dbSNP:
66+c, gdbSNP:377306869
91+a, cdbSNP:370706383
93+a, gdbSNP:374048010
100+c, tdbSNP:367892399
117..118+, ggcggtdbSNP:150026164
129+c, tdbSNP:371327758
139+a, gdbSNP:6661601
207+c, tdbSNP:1143389
330+a, cdbSNP:1143390
562+c, tdbSNP:79326926
564+a, cdbSNP:111660507
639..640+, ggcggctctggcdbSNP:11272549
640+g, tdbSNP:142603426
708+c, gdbSNP:77162859
908+c, tdbSNP:56816110
924+a, gdbSNP:12043009
928+a, gdbSNP:201890491
936+c, tdbSNP:368526633
996+a, cdbSNP:190451624
1026+a, gdbSNP:139894582
1032+a, gdbSNP:181394062
1062+c, tdbSNP:367909890
1132+c, tdbSNP:139020547
1169..1170+, tcdbSNP:148857905
1172..1173+, ctdbSNP:377237707
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 Collodion baby and loricrin keratoderma: a case report and mutation analysis .
Author Yeh JM, Yang MH and Chao SC.
Journal Clin. Exp. Dermatol. 38 (2), 147-150 (2013)
Title Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia .
Author Wei S, Zhou Y, Zhang TD, Huang ZM, Zhang XB, Zhu HL, Liang BH, Lin
Journal Clin. Exp. Dermatol. 36 (4), 399-405 (2011)
Title mRNA-based skin identification for forensic applications .
Author Visser M, Zubakov D, Ballantyne KN 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
Journal J. Biol. Chem. 285 (21), 16184-16194 (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 HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC and Murray JC.
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 SI, Marekov LN and Steinert PM.
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 PM.
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 DR, Iizuka H and Eady RA.
Journal Arch. Dermatol. Res. 285 (8), 491-498 (1993)
Title The human loricrin gene .
Author Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW and Steinert PM.
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 ML, Roop DR and Steinert PM.
Journal J. Biol. Chem. 266 (10), 6626-6636 (1991)

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