The CYB5R3 gene homepage

General information
Gene symbol CYB5R3
Gene name cytochrome b5 reductase 3
Chromosome 22
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_012194.1
Transcript reference NM_000398.6, NM_001129819.2, NM_001171660.1, NM_001171661.1, NM_007326.4, NR_029422.1
Associated with diseases ID, cytochrome-b5 reductase deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 63
Unique public DNA variants reported 8
Individuals with public variants 33
Hidden variants 20
Date created October 29, 2013
Date last updated September 28, 2016
Version CYB5R3:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:2873
Entrez Gene 1727
PubMed articles CYB5R3
OMIM - Gene 613213
OMIM - Diseases cytochrome-b5 reductase deficiency
HGMD CYB5R3
GeneCards CYB5R3
GeneTests CYB5R3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000719 22 transcript variant 4 NM_001171661.1 NP_001165132.1 63
00016542 22 Manually created transcript. NM_000398.6 - 63
00027546 22 Manually created transcript NM_001129819.2 - 63
00027686 22 Manually created transcript NM_001171660.1 - 63
00027934 22 Manually created transcript NM_007326.4 - 63
00031678 22 Manually created transcript (removed from reference sequence) NR_029422.1 - -


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 © 2013-2025. 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.