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

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 (30) und BCKDHB Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Ratte BCKDHB BCKDHB 29711 P35738
Anti-Human BCKDHB BCKDHB 594 P21953
Anti-Maus BCKDHB BCKDHB 12040 Q6P3A8
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Weitere ELISA Kits für BCKDHB Interaktionspartner

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

  1. analysis of NCF2 (zeige NCF2 ELISA Kits), BCKDHB and BCKDHA (zeige BCKDHA ELISA Kits) in pig

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

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

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

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

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

  5. BCKDHA (zeige BCKDHA ELISA Kits) and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.

  6. 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.

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

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

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

  10. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA (zeige BCKDHA ELISA Kits), 5 in BCKDHB and 6 in DBT (zeige DBT ELISA Kits)); 7 of are described for the first time.

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

  1. Disruption of the BDK (zeige KNG1 ELISA Kits) gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids.

BCKDHB Antigen-Profil

Beschreibung des Gens

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

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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