BCS1-Like (S. Cerevisiae) Proteine (BCS1L)

BCS1L encodes a homolog of the S. Zusätzlich bieten wir Ihnen BCS1-Like (S. Cerevisiae) Antikörper (28) und BCS1-Like (S. Cerevisiae) Kits (6) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
BCS1L 617 Q9Y276
BCS1L 66821 Q9CZP5
Ratte BCS1L BCS1L 301514  
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Top BCS1-Like (S. Cerevisiae) Proteine auf antikoerper-online.de

Showing 6 out of 8 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
Insektenzellen Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Anmelden zum Anzeigen 50 bis 55 Tage
Insektenzellen Maus rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Anmelden zum Anzeigen 50 bis 55 Tage
Escherichia coli (E. coli) Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 11 Days

BCS1L Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , , ,
, , ,
Mouse (Murine) ,

Weitere Proteine zu BCS1-Like (S. Cerevisiae) (BCS1L) Interaktionspartnern

Human BCS1-Like (S. Cerevisiae) (BCS1L) Interaktionspartner

  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.

  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

  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.

  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.

  5. Exome sequencing revealed novel BCS1L mutations in two siblings with Bjornstad syndrome characterized by hearing loss and hypotrichosis.

  6. A novel behavioral and psychiatric phenotype associated with a p.Gly129Arg BCS1L mutation.

  7. This region encompasses the BCS1L gene.

  8. These results provide new insights into the role of pathogenic BCS1L mutations in mitochondrial function and dynamics.

  9. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

  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.

  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

  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.

  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.

  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.

  15. mitochondrial complex III deficiency caused by mutations in the BCS1L gene

Mouse (Murine) BCS1-Like (S. Cerevisiae) (BCS1L) Interaktionspartner

  1. COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.

  2. Studies in the yeast BCS1 ortholog indicate that the Bcs1 protein is anchored in the mitochondrial inner membrane, despite the absence of an N-terminal targeting sequence. Targeting occurs via charged amino acids near the transmembrane domain that act as an internal targeting signal.

  3. Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.

  4. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency and is a viable mouse model for mitochondrial hepatopathy.

  5. The predominant expression of BCS1L in the floor plate of the neural tube region, together with its presence in peripheral ganglia from E13 onwards, indicates a role for BCS1L in the development of neural structures.

BCS1-Like (S. Cerevisiae) (BCS1L) Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit BCS1L

  • BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone (BCS1L)
  • mitochondrial chaperone BCS1 (AFUA_3G13000)
  • mitochondrial chaperone bcs1 (CC1G_00820)
  • mitochondrial chaperone BCS1 (CC1G_01181)
  • mitochondrial chaperone BCS1 (CC1G_01608)
  • mitochondrial chaperone BCS1 (CC1G_11035)
  • mitochondrial chaperone BCS1 (CC1G_11036)
  • mitochondrial chaperone BCS1 (Bm1_30135)
  • mitochondrial ATPase (bcs1lA)
  • mitochondrial ATPase (bcs1lB)
  • BCS1-like (yeast) (Bcs1l)
  • BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone L homeolog (bcs1l.L)
  • BC1 (ubiquinol-cytochrome c reductase) synthesis-like (bcs1l)
  • BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone (Bcs1l)
  • 9130022O19Rik Protein
  • BCS Protein
  • BCS1 Protein
  • BJS Protein
  • DDBDRAFT_0184131 Protein
  • DDBDRAFT_0188274 Protein
  • DDBDRAFT_0266725 Protein
  • DDBDRAFT_0266726 Protein
  • DDB_0184131 Protein
  • DDB_0188274 Protein
  • DDB_0266725 Protein
  • DDB_0266726 Protein
  • FLNMS Protein
  • GRACILE Protein
  • h-BCS Protein
  • Hs.6719 Protein
  • MC3DN1 Protein
  • PTD Protein
  • zgc:56205 Protein

Bezeichner auf Proteinebene für BCS1L

BCS1-like protein , h-BCS1 , mitochondrial chaperone BCS1 , mitochondrial complex III assembly , mitochondrial chaperone bcs1 , BC1 (ubiquinol-cytochrome c reductase) synthesis-like

617 Homo sapiens
3512380 Aspergillus fumigatus Af293
6007738 Coprinopsis cinerea okayama7130
6009613 Coprinopsis cinerea okayama7130
6010435 Coprinopsis cinerea okayama7130
6010570 Coprinopsis cinerea okayama7130
6010571 Coprinopsis cinerea okayama7130
6100920 Brugia malayi
8626976 Dictyostelium discoideum AX4
8628408 Dictyostelium discoideum AX4
66821 Mus musculus
539713 Bos taurus
380366 Xenopus laevis
394157 Danio rerio
301514 Rattus norvegicus
Ausgewählte Anbieter für BCS1-Like (S. Cerevisiae) Proteine (BCS1L)
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