TANGO2 gene

transport and golgi organization 2 homolog

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]

From NCBI Gene:

  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration

From UniProt:

Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN): An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, mental retardation, and mild diffuse cerebral atrophy. [MIM:616878]

Cytogenetic Location: 22q11.21, which is the long (q) arm of chromosome 22 at position 11.21

Molecular Location: base pairs 20,017,000 to 20,067,164 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q11.21, which is the long (q) arm of chromosome 22 at position 11.21
  • C22orf25
  • MECRCN