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Gene entry

ISCU

iron-sulfur cluster assembly enzyme

Chromosome
12
Cytoband
12q23.3
Variants (rsID)
2

ISCU is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q23.3). Its official name is “iron-sulfur cluster assembly enzyme”. The reference table lists 2 variants (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs267607190Pathogenicsingle nucleotide variantHereditary myopathy with lactic acidosis due to ISCU deficiency

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.