Validation Data Gallery
|Positive WB detected in||A549 cells, HEK-293 cells, HeLa cells, human brain tissue, mouse colon tissue, mouse kidney tissue, mouse liver tissue, mouse skeletal muscle tissue, mouse small intestine tissue, rat liver tissue|
|Positive IHC detected in||human gliomas tissue, human kidney tissue|
Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
|Positive IF detected in||A549 cells|
|Western Blot (WB)||WB : 1:500-1:1000|
|Immunohistochemistry (IHC)||IHC : 1:20-1:200|
|Immunofluorescence (IF)||IF : 1:20-1:200|
|Sample-dependent, check data in validation data gallery|
10175-2-AP targets BCS1L in WB, IHC, IF,ELISA applications and shows reactivity with human, mouse, rat samples.
|Tested Reactivity||human, mouse, rat|
|Host / Isotype||Rabbit / IgG|
|Immunogen||BCS1L fusion protein Ag0231|
|Full Name||BCS1-like (yeast)|
|Calculated molecular weight||48 kDa|
|Observed molecular weight||50-55 kDa|
|GenBank accession number||BC007500|
|Gene ID (NCBI)||617|
|Purification Method||Antigen affinity purification|
|Storage Buffer||PBS with 0.02% sodium azide and 50% glycerol pH 7.3.|
|Storage Conditions||Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage. 20ul sizes contain 0.1% BSA.|
Human BCS1-like (BCS1L), a mitochondrial inner-membrane protein, is a chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Recently studies indicated that the mutations in this protein may cause the GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome, a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
Sci Transl Med
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Hum Mol Genet
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
How do human cells react to the absence of mitochondrial DNA?
Distinct Roles of Mitochondrial HIGD1A and HIGD2A in Respiratory Complex and Supercomplex Biogenesis.
Biochim Biophys Acta
LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.