Transport and Golgi organization 2 homolog (TANGO2)

Transport and Golgi organization 2 homolog (TANGO2) is a human protein encoded by the TANGO2 gene, located on chromosome 22q11.2. TANGO2 is characterized by an N-terminal nucleophile (Ntn) hydrolase structural fold, and is thought to be involved in Golgi apparatus organization, ER-Golgi trafficking, protein secretion, and mitochondrial bioenergetics. Its function is incompletely characterized, with evidence from cellular and structural studies suggesting roles in lipid homeostasis and mitochondrial function, especially during metabolic stress. Pathogenic mutations in TANGO2 lead to a rare autosomal recessive disorder manifesting as recurrent, severe metabolic crises, rhabdomyolysis, neurodevelopmental delay, cardiac arrhythmias, and thyroid dysfunction. The protein is not a recognized direct therapeutic target; clinical management is focused on rapid recognition and supportive treatment of metabolic and arrhythmogenic complications. TANGO2 deficiency is increasingly recognized in clinical genetics, especially in patients with unexplained arrhythmias or metabolic encephalopathy.

Other names

Chromosome 22 open reading frame 25 (C22orf25)TNG2 (occasionally used)

Not applicable. No drugs directly modulate TANGO2, so mechanisms are undefined. Treatment is supportive and targets downstream consequences of deficiency.