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Recombinant Human Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial (DHTKD1), Truncated

ACP13788

Number
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High Purity LevelsPrecision and ReliabilityCustomization Options

Specifications


Cat.No ACP13788 Target NameDHTKD1
FormLyophilized powderExpression SystemCustom Production. Please inquire and provide the desire expression system.
Protein LengthPartialPurity>85% (SDS-PAGE)
Storage Buffer5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Immunogen Information


Target SpeciesHumanUniprot IDQ96HY7
Background Information
  • Uniprot Id

    Q96HY7

  • Target Species

    Human

  • Target Name

    DHTKD1

  • Target Full Name

    2-oxoadipate dehydrogenase complex component E1

  • Target Function

    The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3).

  • Target Involvement

    Charcot-Marie-Tooth disease 2Q (CMT2Q); 2-aminoadipic 2-oxoadipic aciduria (AMOXAD)

  • Target Subcellular Location

    Mitochondrion.

  • Target Protein Families

    Alpha-ketoglutarate dehydrogenase family

  • Target Synonyms

    AMOXAD; CMT2Q; Dehydrogenase E1 and transketolase domain containing 1; Dehydrogenase E1 and transketolase domain containing protein 1; Dehydrogenase E1 and transketolase domain-containing protein 1; DHTK1_HUMAN; dhtkd1; DKFZp762M115; KIAA1630; MGC3090; Probable 2 oxoglutarate dehydrogenase E1 component DHKTD1 mitochondrial; Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1; mitochondrial

  • Target Background

    This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q.

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