TMEM65
Function
Essential for maintaining proper cardiac intercalated disk (ICD) structure and function as well as cardiac conduction velocity in the heart. Its association with SCN1B is required for stabilizing the perinexus in the ICD and for localization of GJA1 and SCN5A to the ICD. May regulate the function of the gap junction protein GJA1 and may contribute 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 (PubMed:28295037).
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).
Tissue Specificity
Predominantly expressed the ventricular tissue (at protein level).
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Mitochondrion inner membrane
- Multi-pass membrane protein
- Localizes at the intercalated disk in the ventricular tissue (PubMed:26403541).
Alternative names
Transmembrane protein 65, TMEM65