Recombinant Human Mitochondrial chaperone BCS1 (BCS1L), partial

Code CSB-YP897463HU1
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Source Yeast
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Code CSB-EP897463HU1
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Source E.coli
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Code CSB-EP897463HU1-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP897463HU1
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Source Baculovirus
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Code CSB-MP897463HU1
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
BCS1L
Uniprot No.
Alternative Names
BCS1L; BCS1; Mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
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.
Gene References into Functions
  1. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation. PMID: 30226971
  2. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L PMID: 28322498
  3. * Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debre-Fanconi-type tubulopathy. * The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon. PMID: 26563427
  4. Extensive statistical and cluster analyses revealed a protein profile characteristic for the BCS1L mutant fibroblasts that included alterations in energy metabolism, cell signaling and gene expression regulation, cytoskeleton formation and maintenance. PMID: 25239759
  5. Exome sequencing revealed novel BCS1L mutations in two siblings with Bjornstad syndrome characterized by hearing loss and hypotrichosis. PMID: 25895478
  6. A novel behavioral and psychiatric phenotype associated with a p.Gly129Arg BCS1L mutation. PMID: 22991165
  7. This region encompasses the BCS1L gene. PMID: 24172246
  8. These results provide new insights into the role of pathogenic BCS1L mutations in mitochondrial function and dynamics. PMID: 20518024
  9. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L PMID: 12215968
  10. a function of BCS1L is to promote the maturation of complex III and the incorporation of the Rieske iron-sulfur protein into the nascent complex. Defective BCS1L leads to the formation of a catalytically inactive, structurally unstable complex III. PMID: 17403714
  11. assessed whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder PMID: 18386115
  12. BCS1L stimulates the assembly of the LETM1 complex. BCS1L knockdown caused disassembly of the respiratory chains as well as LETM1 downregulation and induced distinct changes in mitochondrial morphology. PMID: 18628306
  13. The severity of the complex III enzyme defect correlated with decreased amounts of BCS1L and respiratory chain complex III. This supports a pathogenic role for the novel BCS1L mutation in a patient with a singular clinical phenotype. PMID: 19162478
  14. The g.1181A>G mutation generated an alternative splicing site in the BCS1L transcript, causing a 19-nucleotides deletion in its 5'UTR region and Complex III deficiency. PMID: 19389488
  15. mitochondrial complex III deficiency caused by mutations in the BCS1L gene PMID: 19508421

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Involvement in disease
GRACILE syndrome (GRACILE); Mitochondrial complex III deficiency, nuclear 1 (MC3DN1); Bjoernstad syndrome (BJS)
Subcellular Location
Mitochondrion inner membrane; Single-pass membrane protein.
Protein Families
AAA ATPase family, BCS1 subfamily
Tissue Specificity
Ubiquitous.
Database Links

HGNC: 1020

OMIM: 124000

KEGG: hsa:617

STRING: 9606.ENSP00000352219

UniGene: Hs.471401

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