UniProt ID: B3DHU2
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 (PubMed:26403541). Regulates mitochondrial respiration and mitochondrial DNA copy number maintenance (By similarity). {ECO:0000250|UniProtKB:Q6PI78, ECO:0000269|PubMed:26403541}.
SUBUNIT: Monomer. Homodimer. Interacts with GJA1. {ECO:0000250|UniProtKB:Q4VAE3}.
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q4VAE3}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q6PI78}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes at the intercalated disk in ventricular tissue and cardiomyocytes. {ECO:0000250|UniProtKB:Q4VAE3}.
TISSUE SPECIFICITY: Expression is restricted to the heart (at protein level). {ECO:0000269|PubMed:26403541}.
DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes pericardial edema and altered cardiac morphology in 4 days post- fertilization (dpf) embryos and severity increases as embryos age. Morrphants are not viable by 7 dpf. Hearts showed abnormal cardiac looping in the morphants and a significant decline in heart beat rates seen in after 4.5 dpf and continue decreasing at 5 and 6 dpf. Ventricles show a significant reduction in amplitude of Ca(2+) transients in morphants between 4 and 6 dpf. {ECO:0000269|PubMed:26403541}.
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