POR gene homepage

General information
Gene symbol POR
Gene name P450 (cytochrome) oxidoreductase
Chromosome 7
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_008930.1
Transcript reference NM_000941.2
Exon/intron information NM_000941.2 exon/intron table
Associated with diseases ABS-1, steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 238
Unique public DNA variants reported 102
Individuals with public variants 117
Hidden variants 1
Download all this gene's data Download all data
Notes POR reference haplotypes
Functional analysis variants
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 03, 2019
Version POR:190503

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_000941.2.
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/POR
External URL Human Cytochrome P450 (CYP) Allele Nomenclature Committee
HGNC 9208
Entrez Gene 5447
PubMed articles POR
OMIM - Gene 124015
OMIM - Diseases ABS-1 (Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS-1))
steroidogenesis, disordered, due to cytochrome P450 oxidoreductase deficiency
GeneCards POR
GeneTests POR

Active transcripts




NCBI ID     

NCBI Protein ID     

00016551 7 P450 (cytochrome) oxidoreductase NM_000941.2 NP_000932.3 238

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2013-2019. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.