分子量：Calculated MW: 47kDa
Observed MW: 48kDa

细胞定位：Mitochondrion inner membrane, Single-pass membrane protein

稀释方法：WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:200

总结：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.