ISCA1
Function
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly.
Involvement in disease
Multiple mitochondrial dysfunctions syndrome 5
MMDS5
An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the HesB/IscA family.
Tissue Specificity
Detected in cerebellum, kidney and heart.
Cellular localization
- Mitochondrion
Alternative names
HBLD2, GK004, ISCA1, HESB-like domain-containing protein 2, Iron-sulfur assembly protein IscA, hIscA