Full Product Name
BCS1L Antibody
Product Synonym Names
BCS; BCS1; BJS; FLNMS; GRACILE; Hs.6719; PTD; h-BCS
Product Gene Name
anti-BCS1L antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human, Mouse, Rat
Purity/Purification
Antigen affinity purification
Immunogen
Fusion protein of BCS1L
Calculated Molecular Weight: 48kd
Observed Molecular Weight: 50-55 kDa
Buffer
PBS with 0.1% sodium azide and 50% glycerol pH 7.3.
Preparation and Storage
Store at -20 degree C. Avoid freeze / thaw cycles
ISO Certification
Manufactured in an ISO 9001:2015 Certified Laboratory.
Other Notes
Small volumes of anti-BCS1L antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Applications Tested/Suitable for anti-BCS1L antibody
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
Application Notes for anti-BCS1L antibody
WB: 1:200-1:2000
IHC: 1:20-1:200
Testing Data of anti-BCS1L antibody
NCBI/Uniprot data below describe general gene information for BCS1L. It may not necessarily be applicable to this product.
NCBI Accession #
AAN05490.1
[Other Products]
UniProt Secondary Accession #
Q7Z2V7; B3KTW9[Other Products]
UniProt Related Accession #
Q9Y276[Other Products]
Molecular Weight
47,534 Da
NCBI Official Full Name
BCS1-like protein
NCBI Official Synonym Full Names
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
NCBI Official Symbol
BCS1L [Similar Products]
NCBI Official Synonym Symbols
BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; GRACILE; Hs.6719
[Similar Products]
NCBI Protein Information
mitochondrial chaperone BCS1; BCS1-like protein; h-BCS1; mitochondrial complex III assembly
UniProt Protein Name
Mitochondrial chaperone BCS1
UniProt Synonym Protein Names
BCS1-like protein
UniProt Gene Name
BCS1L [Similar Products]
UniProt Synonym Gene Names
BCS1; h-BCS1 [Similar Products]
UniProt Entry Name
BCS1_HUMAN
NCBI Summary for BCS1L
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. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
UniProt Comments for BCS1L
BCS1L: Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex. Defects in BCS1L are the cause of GRACILE syndrome (GRACILE). 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. Defects in BCS1L are a cause of mitochondrial complex III deficiency (MT-C3D). A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Defects in BCS1L are the cause of Bjoernstad syndrome (BJS). 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. Belongs to the AAA ATPase family. BCS1 subfamily.
Protein type: Membrane protein, integral; Chaperone; Mitochondrial
Chromosomal Location of Human Ortholog: 2q33
Cellular Component: mitochondrion; mitochondrial respiratory chain complex III
Molecular Function: protein binding; ATP binding
Biological Process: mitochondrion organization and biogenesis; mitochondrial respiratory chain complex I assembly; mitochondrial respiratory chain complex IV assembly
Disease: Leigh Syndrome; Gracile Syndrome; Bjornstad Syndrome; Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Research Articles on BCS1L
1. A novel behavioral and psychiatric phenotype associated with a p.Gly129Arg BCS1L mutation.
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
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