MyBioSource.com's Anti-TANGO2 Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
Transport And Golgi Organization protein 2 (TANGO2) deficiency has been identified as a rare metabolic disorder. Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with recurrent crises involving rhabdomyolysis, cardiac arrhythmias, and metabolic derangements. Individuals with TANGO2-related metabolic encephalopathy and arrhythmias can present in acute metabolic crisis (hypoglycemia, elevated lactate, mild hyperammonemia) or with developmental delay, regression, and/or seizures. The acute presentation varies from profound muscle weakness, ataxia, and/or disorientation to a comatose state. TANGO2-related metabolic encephalopathy and arrhythmias are inherited in an autosomal recessive manner. TANGO2 deficiency is a clinically recognizable cause of pediatric disease with multi-organ involvement