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2024-04-16 21:55:39, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006579 1191 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens emopamil binding protein (sterol isomerase) (EBP),
mRNA.
ACCESSION NM_006579
VERSION NM_006579.2 GI:169808388
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1191)
AUTHORS 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.
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
JOURNAL Br. J. Dermatol. 166 (4), 830-838 (2012)
PUBMED 22121851
REMARK GeneRIF: Results show a clear relationship between abnormal sterol
profile and the EBP gene mutation
Review article
REFERENCE 2 (bases 1 to 1191)
AUTHORS Morice-Picard,F., Kostrzewa,E., Wolf,C., Benlian,P., Taieb,A. and
Lacombe,D.
TITLE Evidence of postzygotic mosaicism in a transmitted form of
Conradi-Hunermann-Happle syndrome associated with a novel EBP
mutation
JOURNAL Arch Dermatol 147 (9), 1073-1076 (2011)
PUBMED 21931045
REMARK GeneRIF: postzygotic mosaicism on an ichthyosiform skin lesion in
the mother of a girl with X-linked dominant chondrodysplasia
punctata associated with a novel EBP mutation.
REFERENCE 3 (bases 1 to 1191)
AUTHORS Lu,Y., Dolle,M.E., Imholz,S., van 't Slot,R., Verschuren,W.M.,
Wijmenga,C., Feskens,E.J. and Boer,J.M.
TITLE Multiple genetic variants along candidate pathways influence plasma
high-density lipoprotein cholesterol concentrations
JOURNAL J. Lipid Res. 49 (12), 2582-2589 (2008)
PUBMED 18660489
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 1191)
AUTHORS Ausavarat,S., Tanpaiboon,P., Tongkobpetch,S., Suphapeetiporn,K. and
Shotelersuk,V.
TITLE Two novel EBP mutations in Conradi-Hunermann-Happle syndrome
JOURNAL Eur J Dermatol 18 (4), 391-393 (2008)
PUBMED 18573709
REMARK GeneRIF: two unrelated Thai girls with chondrodysplasia punctata
type 2. Mutation analysis by PCR-sequencing the entire coding
region of emopamil binding protein(EBP) successfully revealed two
potentially pathogenic, novel mutations, c.616G-->T and c.382delC.
REFERENCE 5 (bases 1 to 1191)
AUTHORS Steijlen,P.M., van Geel,M., Vreeburg,M., Marcus-Soekarman,D.,
Spaapen,L.J., Castelijns,F.C., Willemsen,M. and van Steensel,M.A.
TITLE Novel EBP gene mutations in Conradi-Hunermann-Happle syndrome
JOURNAL Br. J. Dermatol. 157 (6), 1225-1229 (2007)
PUBMED 17949453
REMARK GeneRIF: We found two novel (3G-->T and 419-422delTTCT) and one
known mutation in the EBP gene. The strong phenotypic variability
in our patients suggests that there is no clear genotype-phenotype
correlation.
REFERENCE 6 (bases 1 to 1191)
AUTHORS 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.
TITLE Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta
7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
JOURNAL Nat. Genet. 22 (3), 291-294 (1999)
PUBMED 10391219
REFERENCE 7 (bases 1 to 1191)
AUTHORS Derry,J.M., Gormally,E., Means,G.D., Zhao,W., Meindl,A.,
Kelley,R.I., Boyd,Y. and Herman,G.E.
TITLE Mutations in a delta 8-delta 7 sterol isomerase in the tattered
mouse and X-linked dominant chondrodysplasia punctata.
jderry@immunex.com
JOURNAL Nat. Genet. 22 (3), 286-290 (1999)
PUBMED 10391218
REFERENCE 8 (bases 1 to 1191)
AUTHORS Moebius,F.F., Soellner,K.E., Fiechtner,B., Huck,C.W., Bonn,G. and
Glossmann,H.
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
JOURNAL Biochemistry 38 (3), 1119-1127 (1999)
PUBMED 9894009
REFERENCE 9 (bases 1 to 1191)
AUTHORS Schindelhauer,D., Hellebrand,H., Grimm,L., Bader,I., Meitinger,T.,
Wehnert,M., Ross,M. and Meindl,A.
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
JOURNAL Genome Res. 6 (11), 1056-1069 (1996)
PUBMED 8938429
REFERENCE 10 (bases 1 to 1191)
AUTHORS Hanner,M., Moebius,F.F., Weber,F., Grabner,M., Striessnig,J. and
Glossmann,H.
TITLE Phenylalkylamine Ca2+ antagonist binding protein. Molecular
cloning, tissue distribution, and heterologous expression
JOURNAL J. Biol. Chem. 270 (13), 7551-7557 (1995)
PUBMED 7706302
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU128761.1, CA488777.1,
BC001572.1 and BC001549.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 13, 2008 this sequence version replaced gi:5729809.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC001549.1, AL559203.3 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-31 AU128761.1 1-31
32-69 CA488777.1 12-49
70-163 BC001572.1 1-94
164-1191 BC001549.1 94-1121
FEATURES Location/Qualifiers
source 1..1191
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp11.23-p11.22"
gene 1..1191
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/note="emopamil binding protein (sterol isomerase)"
/db_xref="GeneID:10682"
/db_xref="HGNC:3133"
/db_xref="HPRD:02192"
/db_xref="MIM:300205"
exon 1..132
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="alignment:Splign:1.39.8"
variation 11
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:192547569"
variation 72
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="g"
/db_xref="dbSNP:183610626"
misc_feature 83..85
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/note="upstream in-frame stop codon"
exon 133..506
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="alignment:Splign:1.39.8"
variation 146
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:75348378"
variation 164..165
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace=""
/replace="t"
/db_xref="dbSNP:55772377"
STS 187..336
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/standard_name="SHGC-34488"
/db_xref="UniSTS:48541"
variation 187
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:374851890"
CDS 206..898
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/EC_number="5.3.3.5"
/note="3-beta-hydroxysteroid-delta-8,delta-7-isomerase;
sterol 8-isomerase; Chondrodysplasia punctata-2, X-linked
dominant (Happle syndrome); emopamil-binding protein
(sterol isomerase); D8-D7 sterol isomerase; cholestenol
Delta-isomerase; delta(8)-Delta(7) sterol isomerase"
/codon_start=1
/product="3-beta-hydroxysteroid-Delta(8),
Delta(7)-isomerase"
/protein_id="NP_006570.1"
/db_xref="GI:5729810"
/db_xref="CCDS:CCDS14300.1"
/db_xref="GeneID:10682"
/db_xref="HGNC:3133"
/db_xref="HPRD:02192"
/db_xref="MIM:300205"
/translation="
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
"
misc_feature 290..352
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q15125.3);
transmembrane region"
misc_feature 356..868
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/note="Emopamil binding protein; Region: EBP; pfam05241"
/db_xref="CDD:191242"
misc_feature 401..463
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q15125.3);
transmembrane region"
misc_feature 566..628
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q15125.3);
transmembrane region"
misc_feature 758..820
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q15125.3);
transmembrane region"
variation 209
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1049367"
variation 218
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:201992088"
variation 220
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="g"
/replace="t"
/db_xref="dbSNP:3048"
STS 237..364
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/standard_name="RH16246"
/db_xref="UniSTS:10543"
variation 243
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="g"
/db_xref="dbSNP:150034611"
variation 258
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894795"
variation 264
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="c"
/db_xref="dbSNP:144359050"
variation 281
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200081935"
variation 292
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:104894798"
variation 355
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="t"
/db_xref="dbSNP:1049370"
variation 389
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="c"
/db_xref="dbSNP:372974717"
variation 392
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894799"
variation 398..399
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace=""
/replace="c"
/db_xref="dbSNP:35265835"
variation 443
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:104894800"
variation 466
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:145509273"
variation 487
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="c"
/db_xref="dbSNP:182712356"
variation 494
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:377038311"
exon 507..543
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="alignment:Splign:1.39.8"
exon 544..674
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="alignment:Splign:1.39.8"
variation 546
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="g"
/replace="t"
/db_xref="dbSNP:148792902"
variation 565
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:375337168"
variation 587
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:142881014"
variation 591
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:104894792"
variation 620
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:147961959"
variation 645
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:28935174"
exon 675..1157
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/inference="alignment:Splign:1.39.8"
variation 716
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:141925556"
variation 717
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:144209735"
variation 718
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:147786080"
variation 719
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1049389"
variation 728
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894793"
variation 769
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:140245281"
variation 792
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:104894794"
variation 797
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:199938488"
STS 819..952
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/standard_name="RH93495"
/db_xref="UniSTS:87908"
variation 855
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="c"
/replace="t"
/db_xref="dbSNP:150348311"
STS 881..1096
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/standard_name="RH36014"
/db_xref="UniSTS:78928"
variation 894
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:368736352"
variation 1044..1045
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace=""
/replace="g"
/db_xref="dbSNP:199907187"
variation 1082
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1049435"
variation 1103
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="g"
/db_xref="dbSNP:11544364"
variation 1118
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1049446"
polyA_signal 1137..1142
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
variation 1151
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
/replace="a"
/replace="c"
/db_xref="dbSNP:3177777"
polyA_site 1155
/gene="EBP"
/gene_synonym="CDPX2; CHO2; CPX; CPXD"
ORIGIN
ccattggctcgctccgtaaggcaagagaacccactaggggatgagcccgaactagggatgtgacagagcgcgagacccagcctaaagagagcccggagccagcgtgggaggccgctgccgtcgcgcgccttggtttttctgttccttttttttttttttttttaacttcctgcctatacacacgcagccatcagcccacaaagacatgactaccaacgcgggccccttgcacccatactggcctcagcacctaagactggacaactttgtacctaatgaccgccccacctggcatatactggctggcctcttctctgtcacaggggtcttagtcgtgaccacatggctgttgtcaggtcgtgctgcggttgtcccattggggacttggcggcgactgtccctgtgctggtttgcagtgtgtgggttcattcacctggtgatcgagggctggttcgttctctactacgaagacctgcttggagaccaagccttcttatctcaactctggaaagagtatgccaagggagacagccgatacatcctgggtgacaacttcacagtgtgcatggaaaccatcacagcttgcctgtggggaccactcagcctgtgggtggtgatcgcctttctccgccagcatcccctccgcttcattctacagcttgtggtctctgtgggccagatctatggggatgtgctctacttcctgacagagcaccgcgacggattccagcacggagagctgggccaccctctctacttctggttttactttgtcttcatgaatgccctgtggctggtgctgcctggagtccttgtgcttgatgctgtgaagcacctcactcatgcccagagcacgctggatgccaaggccacaaaagccaagagcaagaagaactgaggagtggtggaccaggctcgaacactggccgaggaggagctctctgcctgccagaagagtctagtcctgctcccacagtttggagggacaaagctaattgatctgtcacactcaggctcatgggcaggcacaagaaggggaataaaggggctgtgtgaaggcactgctgggagccattagaacacagatacaagagaagccaggaggtctatgatggtgacgatttttaaaatcaggaaataaaagatcttgactctaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10682 -> Molecular function: GO:0000247 [C-8 sterol isomerase activity] evidence: IEA
GeneID:10682 -> Molecular function: GO:0004769 [steroid delta-isomerase activity] evidence: TAS
GeneID:10682 -> Molecular function: GO:0004888 [transmembrane signaling receptor activity] evidence: TAS
GeneID:10682 -> Molecular function: GO:0015238 [drug transmembrane transporter activity] evidence: TAS
GeneID:10682 -> Molecular function: GO:0047750 [cholestenol delta-isomerase activity] evidence: IEA
GeneID:10682 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS
GeneID:10682 -> Biological process: GO:0006695 [cholesterol biosynthetic process] evidence: IEA
GeneID:10682 -> Biological process: GO:0006695 [cholesterol biosynthetic process] evidence: TAS
GeneID:10682 -> Biological process: GO:0006855 [drug transmembrane transport] evidence: TAS
GeneID:10682 -> Biological process: GO:0008203 [cholesterol metabolic process] evidence: TAS
GeneID:10682 -> Biological process: GO:0030097 [hemopoiesis] evidence: IEA
GeneID:10682 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:10682 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
GeneID:10682 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
GeneID:10682 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_006570 -> EC 5.3.3.5
by
@meso_cacase at
DBCLS
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