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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006579 Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_006579.2, 169808388
Length 1191 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.
Product 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
Comment

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)356..868
Misc Feature(5)401..463
Misc Feature(6)566..628
Misc Feature(7)758..820
Exon (1)1..132
Gene:EBP
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (2)133..506
Gene:EBP
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (3)507..543
Gene:EBP
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (4)544..674
Gene:EBP
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Exon (5)675..1157
Gene:EBP
Gene Synonym:CDPX2; CHO2; CPX; CPXD
Translation MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
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Position Chain Variation Link
11+dbSNP:
11+a, gdbSNP:192547569
72+c, gdbSNP:183610626
146..147+dbSNP:
146..147+, tdbSNP:55772377
146+c, tdbSNP:75348378
209+a, gdbSNP:1049367
218+a, gdbSNP:201992088
220+g, tdbSNP:3048
243+c, gdbSNP:150034611
258+c, tdbSNP:104894795
264+a, cdbSNP:144359050
281+c, tdbSNP:200081935
292+a, gdbSNP:104894798
355+a, tdbSNP:1049370
392+c, tdbSNP:104894799
397..398+, cdbSNP:35265835
443+a, gdbSNP:104894800
466+c, tdbSNP:145509273
487+a, cdbSNP:182712356
546+dbSNP:
546+g, tdbSNP:148792902
587+c, tdbSNP:142881014
591+a, gdbSNP:104894792
620+a, gdbSNP:147961959
645+a, gdbSNP:28935174
716+dbSNP:
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
1044..1045+, gdbSNP:199907187
1082+a, cdbSNP:1049435
1103..1104+a, gdbSNP:11544364
1118+a, cdbSNP:1049446
1151+a, cdbSNP:3177777
Gene SymbolEBP
Gene SynonymCDPX2; CHO2; CPX; CPXD
ChromosomeX
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 $308.00 $259.00 10
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,M.T., Fernandez-Burriel,M., Rosell,J., Tejedor,M., Martinez,F., Valero,J., Garcia,J.L., Sanchez-Tapia,E.M., 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,M.E., Imholz,S., van 't Slot,R., Verschuren,W.M., Wijmenga,C., Feskens,E.J. and Boer,J.M.
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 Novel EBP gene mutations in Conradi-Hunermann-Happle syndrome .
Author Steijlen,P.M., van Geel,M., Vreeburg,M., Marcus-Soekarman,D., Spaapen,L.J., Castelijns,F.C., Willemsen,M. and van Steensel,M.A.
Journal Br. J. Dermatol. 157 (6), 1225-1229 (2007)
Title Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome .
Author Braverman,N., Lin,P., Moebius,F.F., Obie,C., Moser,A., Glossmann,H., Wilcox,W.R., Rimoin,D.L., Smith,M., Kratz,L., Kelley,R.I. and Valle,D.
Journal Nat. Genet. 22 (3), 291-294 (1999)
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,J.M., Gormally,E., Means,G.D., Zhao,W., Meindl,A., Kelley,R.I., Boyd,Y. and Herman,G.E.
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,F.F., Soellner,K.E., Fiechtner,B., Huck,C.W., 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,F.F., Weber,F., Grabner,M., Striessnig,J. and Glossmann,H.
Journal J. Biol. Chem. 270 (13), 7551-7557 (1995)


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