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Sequence in raw or FASTA format:

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EBP emopamil binding protein (sterol isomerase) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_006579 Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. ORF Sequence $200.97
Peptide Services
Antibody Services
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Gene Symbol EBP
Entrez Gene ID 10682
Full Name emopamil binding protein (sterol isomerase)
Synonyms CDPX2, CHO2, CPX, CPXD
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.23-p11.22

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].
Disorder

MIM: 300205

Chondrodysplasia punctata, X-linked dominant, 302960 (3)

mRNA Protein Product Sequence Price Select
NM_006579, 169808388 NP_006570, 5729810 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase Full Length $345.39
ORF Sequence $200.97
KEGG
hsa00100Steroid biosynthesis
hsa_M00101Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol
BIOCYC
META_PWY66-5superpathway of cholesterol biosynthesis
META_PWY66-341cholesterol biosynthesis I
HUMAN_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
META_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY66-341cholesterol biosynthesis I
HUMAN_PWY66-4cholesterol biosynthesis III (via desmosterol)
META_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
Reactome
REACT_9405Cholesterol biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)EBPNP_006570.1
Canis lupus familiaris (dog)EBPXP_851024.1
Bos taurus (cattle)EBPNP_001029672.1
Mus musculus (house mouse)EbpNP_031924.1
Rattus norvegicus (Norway rat)EbpNP_476478.1
Danio rerio (zebrafish)ebpNP_001002328.1
Arabidopsis thaliana (thale cress)HYD1NP_173433.1
GeneCards EBP
UniProt Q15125
MIM 300205
Ensembl ENSG00000147155
HGNC 3133
HPRD 02192

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
sterol 8-isomerase
D8-D7 sterol isomerase
cholestenol Delta-isomerase
delta(8)-Delta(7) sterol isomerase
emopamil-binding protein (sterol isomerase)
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
NP_006570.1

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