UQCRB gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol UQCRB
Gene name ubiquinol-cytochrome c reductase binding protein
Chromosome 8
Chromosomal band q22
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_001199975.2, NM_001254752.1, NM_006294.4, NR_045639.1
Associated with diseases MC3DN1, MC3DN3
Citation reference(s) -
Curators (0) -
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 07, 2013

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
HGNC 12582
Entrez Gene 7381
PubMed articles UQCRB
OMIM - Gene 191330
OMIM - Diseases MC3DN1 (Mitochondrial complex III deficiency, nuclear type 1, 124000 (3))
MC3DN3 (Mitochondrial complex III deficiency, nuclear type 3, 615158 (3))
GeneCards UQCRB
GeneTests UQCRB

Active transcripts




NCBI ID     

NCBI Protein ID     

00000357 8 transcript variant 1 NM_006294.4 NP_006285.1 1
00000358 8 transcript variant 3 NM_001254752.1 NP_001241681.1 1
00000359 8 transcript variant 4 NR_045639.1 - 1
00000360 8 transcript variant 2 NM_001199975.2 NP_001186904.1 1

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium