Rabbit anti-Human, Mouse BCS1L Polyclonal Antibody | anti-BCS1L antibody

BCS1L Antibody

Cat. Num. AAA7044527

• Gene Names: BCS1L; BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719
• Reactivity: Human, Mouse
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Antigen Affinity Purified
• Synonyms: BCS1L; Polyclonal Antibody; BCS1L Antibody; Mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein; BCS1; anti-BCS1L antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 419

• Applicable Applications for anti-BCS1L antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Species: Human
• Immunogen: Recombinant human Mitochondrial chaperone BCS1 protein (33-240AA)
• Conjugate: Non-conjugated
• Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Western Blot (WB)

(Western blotAll lanes: BCS1L antibody at 5.04 ug/mlLane 1: Mouse kidney tissueLane 2: Mouse liver tissueLane 3: Mouse brain tissueLane 4: A549 whole cell lysateLane 5: 293T whole cell lysateLane 6: Hela whole cell lysateSecondaryGoat polyclonal to rabbit IgG at 1/10000 dilutionPredicted band size: 48 kDaObserved band size: 48,30 kDa)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human glioma cancer using MBS7044527 at dilution 1:100)

Related Product Information for anti-BCS1L antibody

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.

NCBI and Uniprot Product Information

• NCBI GI #: 119964730
• NCBI GeneID: 617
• NCBI Accession #: NP_001073335.1
• NCBI GenBank Nucleotide #: NM_001079866.1
• UniProt Accession #: Q9Y276; Q7Z2V7; B3KTW9
• Molecular Weight: 47,534 Da
• 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; Chaperone; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2q33

Cellular Component: mitochondrial respiratory chain complex III; mitochondrion

Molecular Function: protein binding

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

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