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| Cat.No | ACP06276 | Target Name | TMEM65 |
|---|---|---|---|
| Target Synonyms | TMEM65; Transmembrane protein 65 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Protein Length | Partial |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-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. |
| Target Species | Human | Uniprot ID | Q6PI78 |
|---|
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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