基因名称(Gene Name)
BCS1L BCS1
免疫原
Synthesized peptide derived from human BCS1 AA range: 29-79
特异性
This antibody detects endogenous levels of BCS1 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
disease:Defects in BCS1L are a cause of mitochondrial complex III deficiency (CIII deficiency) [MIM:124000]. CIII deficiency is characterized by congenital lactic acidosis. Patients had severe failure to thrive, liver dysfunction and renal tubulopathy.,disease:Defects in BCS1L are the cause of Bjoernstad syndrome (BJS) [MIM:262000]. BJS is an autosomal recessive condition characterized by sensorineural hearing loss and pili torti. The hearing loss in BJS is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle, is usually recognized early in childhood.,disease:Defects in BCS1L are the cause of GRACILE syndrome [MIM:603358]. GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and
