Emopamil binding protein

Emopamil binding protein is a protein that in humans is encoded by the EBP gene, located on the X chromosome.[5]

EBP
Identifiers
Aliases	EBP, CDPX2, CHO2, CPX, CPXD, MEND, emopamil binding protein (sterol isomerase), cholestenol delta-isomerase, EBP cholestenol delta-isomerase
External IDs	OMIM: 300205 MGI: 107822 HomoloGene: 4798 GeneCards: EBP
EC number	5.3.3.5
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 48,521,799 bp[1] End 48,528,716 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.7 cM Start 8,185,329 bp[2] End 8,193,512 bp[2]
Gene ontology Molecular function • C-8 sterol isomerase activity • isomerase activity • GO:0015238 xenobiotic transporter activity • transmembrane signaling receptor activity • cholestenol delta-isomerase activity • steroid delta-isomerase activity • GO:0001948 protein binding Cellular component • integral component of membrane • endoplasmic reticulum membrane • membrane • intracellular membrane-bounded organelle • integral component of plasma membrane • endoplasmic reticulum • cytoplasmic vesicle • nuclear envelope • cell nucleus Biological process • skeletal system development • steroid metabolic process • sterol biosynthetic process • lipid metabolism • cholesterol metabolic process • cholesterol biosynthetic process via lathosterol • sterol metabolic process • cholesterol biosynthetic process via desmosterol • steroid biosynthetic process • cholesterol biosynthetic process • drug transmembrane transport • signal transduction • haematopoiesis • xenobiotic transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10682	13595
Ensembl	ENSG00000147155	ENSMUSG00000031168
UniProt	Q15125	P70245
RefSeq (mRNA)	NM_006579	NM_007898
RefSeq (protein)	NP_006570	NP_031924
Location (UCSC)	Chr X: 48.52 – 48.53 Mb	Chr X: 8.19 – 8.19 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

emopamil binding protein (sterol isomerase)
Identifiers
Symbol	EBP
Alt. symbols	CDPX2
NCBI gene	10682
HGNC	3133
OMIM	300205
RefSeq	NM_006579
UniProt	Q15125
Other data
Locus	Chr. X p11.23-p11.22

Clinical significance

Mutations in EBP cause Conradi–Hünermann syndrome.

See also

• Emopamil

References

1. GRCh38: Ensembl release 89: ENSG00000147155 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031168 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Guggenberger C, Ilgen D, Adamski J (May 2007). "Functional analysis of cholesterol biosynthesis by RNA interference". J. Steroid Biochem. Mol. Biol. 104 (3–5): 105–9. doi:10.1016/j.jsbmb.2007.03.001. PMID 17498944.

External links

• GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi-Hünermann Syndrome, Happle Syndrome
• EBP+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)