TANGO2 binds crystallin alpha B and its loss causes desminopathy

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.

Citation:
Stentenbach M, Hughes LA, Fagan SV, Payne B, Rudler DL, Siira SJ, McCubbin T, Chopin A, Perks KL, Ermer JA, ........ Padman BS, Rackham O, Filipovska A. TANGO2 binds crystallin alpha B and its loss causes desminopathy. Nat Commun. 2025;16(1).

Keywords:
Cardiomyopathies; desmin; genetics; metabolism; glycosylation; intermediate filaments; mitochondria; muscular dystrophies; mutation; protein binding; alpha-Crystallin B Chain

Abstract:
Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.