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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BCS1L (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID617
Official gene symbolBCS1L
Full nameBCS1-like (yeast)
Aliases,BCS,BCS1,BJS,FLNMS,GRACILE,Hs.6719,PTD,h-BCS,
Gene summaryThis 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. Two alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq]
LocationChromosome: 2   Locus: 2q33
Gene position219524379 - 219528166  Map Viewer
Gene orientationplus
Gene size3788 bp
Gene sequence
OMIM ID603647