Aliases for BCS1L Gene
External Ids for BCS1L Gene
Previous GeneCards Identifiers for BCS1L Gene
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]
GeneCards Summary for BCS1L Gene
BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone) is a Protein Coding gene. Diseases associated with BCS1L include Gracile Syndrome and Bjornstad Syndrome. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include RNA binding and RNA helicase activity.
UniProtKB/Swiss-Prot Summary for BCS1L Gene
Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.