BCS1L gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol BCS1L
Gene name BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001079866.1, NM_004328.4
Associated with diseases 603358, BJS, LS, MC3DN1
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (1) Lishuang Shen
Total number of public variants reported 61
Unique public DNA variants reported 44
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 06, 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
External URL http://databases.lovd.nl/shared/genes/BCS1L
HGNC 1020
Entrez Gene 617
PubMed articles BCS1L
OMIM - Gene 603647
OMIM - Diseases 603358 (GRACILE syndrome, 603358 (3))
BJS (Bjornstad syndrome, 262000 (3))
LS (Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3))
MC3DN1 (Mitochondrial complex III deficiency, nuclear type 1, 124000 (3))
HGMD BCS1L
GeneCards BCS1L
GeneTests BCS1L


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000012 2 BCS1-like (S. cerevisiae), transcript variant 1 NM_004328.4 NP_004319.1 61
00000013 2 BCS1-like (S. cerevisiae), transcript variant 2 NM_001079866.1 NP_001073335.1 61


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium