BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Gene ID: 617, updated on 28-Oct-2024
Gene type: protein coding
Also known as: BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719

Summary

This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
GRACILE syndrome MedGen: C1864002OMIM: 603358GeneReviews: Not available	See labs
Mitochondrial complex III deficiency nuclear type 1 MedGen: C3541471OMIM: 124000GeneReviews: Not available	See labs
Pili torti-deafness syndrome MedGen: C0266006OMIM: 262000GeneReviews: Not available	See labs

Genomic context

Location:: 2q35

Sequence:: Chromosome: 2; NC_000002.12 (218658743..218663443)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BCS1L variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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