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.
