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Recombinant Human Transmembrane protein 65 (TMEM65), Truncated

ACP06276

Number
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High Purity LevelsPrecision and ReliabilityCustomization Options

Specifications


Cat.No ACP06276 Target NameTMEM65
Target SynonymsTMEM65; Transmembrane protein 65FormLyophilized powder
Expression SystemCustom Production. Please inquire and provide the desire expression system.Protein LengthPartial
Purity>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 IDQ6PI78
Background Information
  • Uniprot Id

    Q6PI78

  • Target Species

    Human

  • Target Name

    TMEM65

  • Target Full Name

    Transmembrane protein 65

  • Target Function

    May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication. May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance.

  • Target Involvement

    Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy (PubMed:28295037).

  • Target Subcellular Location

    Cell membrane; Multi-pass membrane protein. Mitochondrion inner membrane; Multi-pass membrane protein.

  • Target Tissue Specificity

    Predominantly expressed the ventricular tissue (at protein level).

  • Target Synonyms

    TMEM65; Transmembrane protein 65

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