This family includes transmembrane protein 168 (TMEM168) and similar proteins. TMEM168 is a multi-pass membrane protein predicted to contain nine transmembrane helices. Its expression has been implicated in several diseases. It is upregulated in glioblastoma multiforme (GBM) and small interfering RNA (siRNA)-TMEM168 has been shown to prevent viability of human GBM cell lines, induce cell cycle arrest (G0/G1 phase), and promote apoptosis through the suppression of the Wnt/beta-catenin pathway. A TMEM168 point mutation has also been associated with arrhythmogenesis in familial Brugada syndrome.
Feature 1: Brugada syndrome mutation, 1 residue position
Conserved feature residue pattern:R
Comment:R539Q mutation identified in familial Brugada syndrome, an inherited channelopathy characterized by a typical electrocardiography (ECG) with a right bundle branch block and ST-segment elevation in the absence of structural heart diseases