产品名称
BCS1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/617
Human Swissprot No.
Q9Y276
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Y276/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/66821
Mouse Swissprot No.
Q9CZP5
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9CZP5
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Mitochondrion inner membrane ; Single-pass membrane protein .
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 early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.,function:Chaperone necessary for the assembly of mitochondrial respiratory chain complex III.,similarity:Belongs to the AAA ATPase family.,similarity:Belongs to the AAA ATPase family. BCS1 subfamily.,tissue specificity:Ubiquitous.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
