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
AliasesEBP, CDPX2, CHO2, CPX, CPXD, MEND, emopamil binding protein (sterol isomerase), cholestenol delta-isomerase, EBP cholestenol delta-isomerase
External IDsOMIM: 300205 MGI: 107822 HomoloGene: 4798 GeneCards: EBP
EC number5.3.3.5
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp11.23Start48,521,799 bp[1]
End48,528,716 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr X: 8.19 – 8.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
emopamil binding protein (sterol isomerase)
Identifiers
SymbolEBP
Alt. symbolsCDPX2
NCBI gene10682
HGNC3133
OMIM300205
RefSeqNM_006579
UniProtQ15125
Other data
LocusChr. X p11.23-p11.22

Clinical significance

Mutations in EBP cause Conradi–Hünermann syndrome.

See also

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. S2CID 20838858.


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