The EBP gene homepage

General information
Gene symbol EBP
Gene name emopamil binding protein (sterol isomerase)
Chromosome X
Chromosomal band p11.23-p11.22
Imprinted Unknown
Genomic reference NG_007452.1
Transcript reference NM_006579.2
Exon/intron information NM_006579.2 exon/intron table
Associated with diseases CPDX2, MEND
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Fabienne Dufernez
Total number of public variants reported 76
Unique public DNA variants reported 58
Individuals with public variants 61
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated February 26, 2024
Version EBP:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006579.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/EBP
HGNC 3133
Entrez Gene 10682
PubMed articles EBP
OMIM - Gene 300205
OMIM - Diseases CPDX2 (chondrodysplasia punctata, type 2, X-linked dominant (CPDX-2, Conradi-Hunermann syndrome))
MEND (MEND syndrome)
HGMD EBP
GeneCards EBP
GeneTests EBP
Orphanet EBP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000715 X emopamil binding protein (sterol isomerase) NM_006579.2 NP_006570.1 76


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.