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Product Description
Recombinant Human Transmembrane protein 65 (TMEM65), partial is available at Gentaur for Next week Delivery.
Gene Name: TMEM65
Alternative Names :
Expression Region : 63-240aa
AA Sequence : MEALNTAQGARDFIYSLHSTERSCLLKELHRFESIAIAQEKLEAPPPTPGQLRYVFIHNAIPFIGFGFLDNAIMIVAGTHIEMSIGIILGISTMAAAALGNLVSDLAGLGLAGYVEALASRLGLSIPDLTPKQVDMWQTRLSTHLGKAVGVTIGCILGMFPLIFFGGGEEDEKLETKS
Sequence Info : Partial
Tag Info : N-terminal 6xHis-SUMO-tagged
Theoretical MW : 35.1 kDa
Storage Buffer : Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Endotoxin Level : Not tested-
Biological Activity : Not tested
Storage : Short term: -20°C; Long term: -80°C. Minimize freeze and thaw cycles.
Research Area : Cell Biology
Restriction : For Research Use Only. Not for use in diagnostic procedures, drug use, or for administration to humans or animals.
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.
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 contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance
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 : Predominantly expressed the ventricular tissue (at protein level).
Paythway :
Uniprot ID : Q6PI78
