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 72
Unique public DNA variants reported 57
Individuals with public variants 59
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 January 11, 2023
Version EBP:230111

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
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)
GeneCards EBP
GeneTests EBP
Orphanet EBP

Active transcripts




NCBI ID     

NCBI Protein ID     

00000715 X emopamil binding protein (sterol isomerase) NM_006579.2 NP_006570.1 72

Copyright & disclaimer
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