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.
应用类型
IF,IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 33-240 of human BCS1L (NP_004319.1).
