Mouse anti-Human BCS1L Monoclonal Antibody | anti-BCS1L antibody

BCS1L (Mitochondrial Chaperone BCS1, h-BCS1, BCS1-like Protein, BCS1) (Biotin)

Cat. Num. AAA6140815

• Gene Names: BCS1L; BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719
• Reactivity: Human
• Applications: ELISA, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: BCS1L; Monoclonal Antibody; BCS1L (Mitochondrial Chaperone BCS1; h-BCS1; BCS1-like Protein; BCS1) (Biotin); anti-BCS1L antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG1,k
• Clone Number: 5F3
• Specificity: Recognizes human BCS1L.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.
• Sequence Length: 419

• Applicable Applications for anti-BCS1L antibody: ELISA (EIA), Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa320-418 from human BCS1L (NP_004319) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: ASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLR
• Conjugate: Biotin
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot detection against Immunogen (36.63kD).)

Western Blot (WB)

(Western Blot analysis of BCS1L expression in transfected 293T cell line by BCS1L monoclonal antibody. Lane 1: BCS1L transfected lysate (47.534kD). Lane 2: Non-transfected lysate.)

Related Product Information for anti-BCS1L antibody

BCS1L (BCS1-like) is a chaperone necessary for the assembly of mitochondrial respiratory chain complex III. The 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. Two alternatively spliced transcripts encoding the same protein have been described.

Product Categories/Family for anti-BCS1L antibody

Antibodies; Proteins

References

1. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Kotarsky H, Karikoski R, Morgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman F.Mitochondrion (2010), doi:10.1016/ j.mito.2010.05.009. 2. Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. Gil-Borlado MC, Gonzalez-Hoyuela M, Blazquez A, Garcia-Silva MT, Gabaldon T, Manzanares J, Vara J, Martin MA, Seneca S, Arenas J, Ugalde C.Mitochondrion. 2009 Sep;9(5):299-305. Epub 2009 Apr 21.

NCBI and Uniprot Product Information

• NCBI GI #: 4757852
• NCBI GeneID: 617
• NCBI Accession #: NP_004319
• NCBI GenBank Nucleotide #: NM_004328
• UniProt Accession #: Q9Y276
• NCBI Official Full Name: mitochondrial chaperone BCS1 isoform a
• NCBI Official Synonym Full Names: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
• NCBI Official Symbol: BCS1L
• NCBI Official Synonym Symbols: BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719
• NCBI Protein Information: mitochondrial chaperone BCS1
• UniProt Protein Name: Mitochondrial chaperone BCS1
• UniProt Gene Name: BCS1L
• UniProt Synonym Gene Names: BCS1; h-BCS1
• UniProt Entry Name: BCS1_HUMAN

NCBI Description

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]

Uniprot Description

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: Mitochondrial; Membrane protein, integral; Chaperone

Chromosomal Location of Human Ortholog: 2q33

Cellular Component: mitochondrion; mitochondrial respiratory chain complex III

Molecular Function: protein binding; ATP binding

Biological Process: mitochondrial respiratory chain complex I assembly; mitochondrion organization and biogenesis; mitochondrial respiratory chain complex IV assembly

Disease: Leigh Syndrome; Gracile Syndrome; Bjornstad Syndrome; Mitochondrial Complex Iii Deficiency, Nuclear Type 1