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ISCU

MIM.611911

ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur cluster biosynthesis.

Pathology

  • A myopathy with severe exercise intolerance and myoglobinuria has been described in patients from northern Sweden, with associated deficiencies of succinate dehydrogenase and aconitase in skeletal muscle.

See also

- defects in iron-sulfur cluster biogenesis.

References

- Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar;82(3):652-60. PMID: 18304497

Keywords