Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide Proteine (BCKDHB)

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. Zusätzlich bieten wir Ihnen BCKDHB Antikörper (34) und und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
BCKDHB 29711 P35738
BCKDHB 594 P21953
BCKDHB 12040 Q6P3A8
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Showing 6 out of 6 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 50 Days
$6,749.58
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Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg 50 Days
$6,749.58
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg 11 Days
$888.80
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Wheat germ Human GST tag 2 μg 11 bis 12 Tage
$230.67
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Hefe Rind (Kuh) His tag   1 mg 60 bis 71 Tage
$2,927.83
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Hefe Ratte His tag   1 mg 60 bis 71 Tage
$2,927.83
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BCKDHB Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Rat (Rattus)

Human , ,
, ,
Mouse (Murine)

Weitere Proteine zu Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) Interaktionspartnern

Pig (Porcine) Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) Interaktionspartner

  1. analysis of NCF2, BCKDHB and BCKDHA in pig

Human Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) Interaktionspartner

  1. Two heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) of the BCKDHB gene were associated with a pedigree affected with maple syrup urine disease.

  2. Six different novel genetic variants were validated in BCKDHB gene and BCKDHA gene, including c.523 T > C, c.659delA, c.550delT, c.863G > A and two gross deletions

  3. Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient).

  4. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants

  5. Five novel mutations in BCKDHB were identified in MSUD patients.

  6. we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation

  7. Mutations in BCKDHB gene is associated with maple syrup urine disease.

  8. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.

  9. analysis of roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site

  10. cross-talk between thiamin diphosphate binding and phosphorylation loop conformation has an effect on human branched-chain alpha-keto acid decarboxylase/dehydrogenase

  11. A key tyrosine residue in the E1b active site functions as a conformational switch to reduce the reactivity of the thiamine diphosphate cofactor through interactions with its thiazolium ring.

  12. the two active sites in the E1b heterotetramer operate independently during the ThDP-dependent decarboxylation reaction

  13. Reconstructed haplotype from BCKDHB variants was associated with premature ovarian failure.

  14. in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes

  15. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.

  16. In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.

  17. Founder mutation in Ashkenazi Jewish population that causes maple syrup urine disease.

Mouse (Murine) Branched Chain Keto Acid Dehydrogenase E1, beta Polypeptide (BCKDHB) Interaktionspartner

  1. Disruption of the BDK gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.

BCKDHB Protein Überblick

Protein Überblick

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform.

Genbezeichner und Symbole assoziert mit BCKDHB

  • branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB)
  • branched chain keto acid dehydrogenase E1 subunit beta (BCKDHB)
  • branched chain keto acid dehydrogenase E1, beta polypeptide (bckdhb)
  • branched chain keto acid dehydrogenase E1, beta polypeptide S homeolog (bckdhb.S)
  • branched chain keto acid dehydrogenase E1 subunit beta (Bckdhb)
  • branched chain ketoacid dehydrogenase E1, beta polypeptide (Bckdhb)
  • BCKDHB Protein
  • dJ279A18.1 Protein
  • E1B Protein
  • zgc:158777 Protein

Bezeichner auf Proteinebene für BCKDHB

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial , branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) , mitochondrial branched-chain alpha-keto acid dehydrogenase E1-beta subunit , branched chain keto acid dehydrogenase E1, beta polypeptide , branched chain keto acid dehydrogenase E1 beta polypeptide , branched chain keto acid dehydrogenase E1 beta-like , 2-oxoisovalerate dehydrogenase beta subunit , BCKDE1B , BCKDH E1-beta , branched chain keto acid dehydrogenase E1 beta , branched-chain alpha-keto acid dehydrogenase E1 component beta chain , E1b-beta subunit of the branched-chain complex , branched chain alpha-ketoacid dehydrogenase E1-beta subunit

GENE ID SPEZIES
395375 Gallus gallus
462845 Pan troglodytes
474978 Canis lupus familiaris
569980 Danio rerio
100023799 Monodelphis domestica
100065300 Equus caballus
100137712 Xenopus laevis
100142669 Sus scrofa
100173401 Pongo abelii
100353682 Oryctolagus cuniculus
100597493 Nomascus leucogenys
29711 Rattus norvegicus
594 Homo sapiens
282150 Bos taurus
12040 Mus musculus
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