Specification
| Organism | Homo sapiens (Human) |
| Expression Host | in vitro E.coli expression system |
| Tag Info | N-terminal 6xHis-SUMO-tagged |
| Purity | Greater than 85% by SDS-PAGE |
| Uniprot ID | Q6PI78 |
| Gene Names | TMEM65 |
| Alternative Names | TMEM65; TMM65_HUMAN; Transmembrane protein 65 |
| Expression Region | Partial(63-240aa ) |
| Molecular Weight | 35.1 kDa |
| Protein Sequence | MEALNTAQGARDFIYSLHSTERSCLLKELHRFESIAIAQEKLEAPPPTPGQLRYVFIHNAIPFIGFGFLDNAIMIVAGTHIEMSIGIILGISTMAAAALGNLVSDLAGLGLAGYVEALASRLGLSIPDLTPKQVDMWQTRLSTHLGKAVGVTIGCILGMFPLIFFGGGEEDEKLETKS |
| Form | Liquid or Lyophilization |
| Buffer | The default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol if the delivery form is liquid. The lyophilization buffer is Tris/PBS-based buffer, 6% Trehalose, pH 8.0 if the delivery form is lyophilized powder. Please contact us if you have any special requirment. |
| Reconstitution | Please reconstitute protein in deionized sterile water and we recommend that briefly centrifuge thevial prior to opening the vial .We recommend aliquot for long-term storage at -20℃/-80℃. |
Background
| Relevance | Plays an important role in cardiac development and function. Regulates cardiac conduction and the function of the gap junction protein GJA1. Contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication. |
| Involvement in Disease | 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). |
| Subcellular Location | Cell membrane, Multi-pass membrane protein, Mitochondrion inner membrane, Multi-pass membrane protein |
| Protein Families | |
| Tissue Specificity | TMEM65 |
QC Data
| Note | Please contact us for QC Data |
| Product Image (Reference Only) |  |