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Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Select
OHu18817D Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. pcDNA3.1-C-(k)DYK In-stock Starting from $99 5-7
OHu18817C Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. Your vector of choice In-stock Starting from $99 5-7
OHu18817M Mutant Clone for Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. pcDNA3.1-C-(k)DYK In-stock Starting from $149 Additional 5 days
OHu18817CM Mutant Clone for Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. Your vector of choice In-stock Starting from $149 Additional 5 days

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_006579.2, 169808388
Length 693 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.
Product 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase

Summary: The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008].

RefSeq NP_006570.1
CDS 206..898
Misc Feature(1)83..85
Misc Feature(2)290..352
Misc Feature(3)290..352
Misc Feature(4)296..862
Misc Feature(5)401..463
Misc Feature(6)566..628
Misc Feature(7)758..820
Exon (1)1..132
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (2)133..506
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (3)507..543
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (4)544..674
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (5)675..1157
Gene Synonym:CDPX2; CHO2; CPX; CPXD
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Position Chain Variation Link
11+a, gdbSNP:192547569
72+c, gdbSNP:183610626
146+c, tdbSNP:75348378
164..165+, tdbSNP:55772377
187+a, gdbSNP:374851890
209+a, gdbSNP:1049367
218+a, gdbSNP:201992088
243+c, gdbSNP:150034611
258+c, tdbSNP:104894795
264+a, cdbSNP:144359050
281+c, tdbSNP:200081935
292+a, gdbSNP:104894798
355+a, tdbSNP:1049370
389+a, cdbSNP:372974717
392+c, tdbSNP:104894799
complement(398..399)-, cdbSNP:35265835
443+a, gdbSNP:104894800
466+c, tdbSNP:145509273
487+a, cdbSNP:182712356
494+c, tdbSNP:377038311
546+g, tdbSNP:148792902
565+c, tdbSNP:375337168
587+c, tdbSNP:142881014
591+a, gdbSNP:104894792
620+a, gdbSNP:147961959
645+a, gdbSNP:28935174
716+c, tdbSNP:141925556
717+a, gdbSNP:144209735
718+c, tdbSNP:147786080
719+a, gdbSNP:1049389
728+c, tdbSNP:104894793
769+c, tdbSNP:140245281
792+a, gdbSNP:104894794
797+a, gdbSNP:199938488
855+c, tdbSNP:150348311
894+a, gdbSNP:368736352
1044..1045+, gdbSNP:199907187
1082+a, cdbSNP:1049435
1103+a, gdbSNP:11544364
1118+a, cdbSNP:1049446
1151+a, cdbSNP:3177777
Gene SymbolEBP
Gene SynonymCDPX2; CHO2; CPX; CPXD
Locus MapXp11.23-p11.22
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006579 Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. In-stock Starting from $99 5-7
Title Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin .
Author Miao M, Reichheld SE, Muiznieks LD, Huang Y and Keeley FW.
Journal Biochemistry 52 (44), 7731-7741 (2013)
Title Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature .
Author Canueto J, Giros M, Ciria S, Pi-Castan G, Artigas M, Garcia-Dorado J, Garcia-Patos V, Viros A, Vendrell T, Torrelo A, Hernandez-Martin A, Martin-Hernandez E, Garcia-Silva MT, Fernandez-Burriel M, Rosell J, Tejedor M, Martinez F, Valero J, Garcia JL, Sanchez-Tapia EM, Unamuno P and Gonzalez-Sarmiento R.
Journal Br. J. Dermatol. 166 (4), 830-838 (2012)
Title Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation .
Author Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taieb A and Lacombe D.
Journal Arch Dermatol 147 (9), 1073-1076 (2011)
Title Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations .
Author Lu Y, Dolle ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ and Boer JM.
Journal J. Lipid Res. 49 (12), 2582-2589 (2008)
Title Two novel EBP mutations in Conradi-Hunermann-Happle syndrome .
Author Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K and Shotelersuk V.
Journal Eur J Dermatol 18 (4), 391-393 (2008)
Title Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com .
Author Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y and Herman GE.
Journal Nat. Genet. 22 (3), 286-290 (1999)
Title Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization .
Author Moebius FF, Soellner KE, Fiechtner B, Huck CW, Bonn G and Glossmann H.
Journal Biochemistry 38 (3), 1119-1127 (1999)
Title Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval .
Author Schindelhauer D, Hellebrand H, Grimm L, Bader I, Meitinger T, Wehnert M, Ross M and Meindl A.
Journal Genome Res. 6 (11), 1056-1069 (1996)
Title Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression .
Author Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J and Glossmann H.
Journal J. Biol. Chem. 270 (13), 7551-7557 (1995)
Title Chondrodysplasia Punctata 2, X-Linked .
Author Dempsey,M.A., Tan,C. and Herman,G.E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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