Iba57 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| IBA57 - Iron-Sulfur Cluster Assembly Factor IBA57 | |
|---|---|
| Full Name | Iron-Sulfur Cluster Assembly Factor IBA57 |
| Chromosomal Location | 1q42.3 |
| NCBI Gene ID | [128308](https://www.ncbi.nlm.nih.gov/gene/128308) |
| OMIM | [615316](https://www.omim.org/entry/615316) |
| Ensembl ID | ENSG00000169189 |
| UniProt | [Q9H1K0](https://www.uniprot.org/uniprot/Q9H1K0) |
| Associated Diseases | SPG74, MC4AH, MLS, Hereditary Spastic Paraplegia |
| Protein Class | Mitochondrial Fe-S cluster assembly factor |
| Expression | Mitochondria (brain, muscle, liver) |
IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57) encodes a mitochondrial matrix protein essential for the biogenesis of iron-sulfur (Fe-S) clusters, which are critical cofactors for numerous enzymes involved in energy metabolism, DNA repair, and protein synthesis. IBA57 mutations cause hereditary spastic paraplegia (SPG74), myopathy, and in severe cases, multiple congenital anomalies. The protein forms a complex with ISCA1 and ISCA2 to catalyze the final steps of Fe-S cluster maturation for specific target proteins[1].
IBA57 is a mitochondrial Fe-S cluster assembly factor that functions in the late stages of 4Fe-4S cluster maturation:
IBA57 is primarily expressed in tissues with high mitochondrial content:
SPG74 is an autosomal recessive form of pure hereditary spastic paraplegia caused by IBA57 mutations[3]:
Severe early-onset disorder with:
The neurodegeneration caused by IBA57 deficiency involves:
No approved disease-modifying treatments exist:
The study of Iba57 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Sheftel AD, et al. (2015). Human IBA57 is essential for both [2Fe-2S] and [4Fe-4S] cluster biogenesis. 2015. ↩︎
Beilschmidt LK, et al. (2017). ISCA1 and IBA57 in mitochondrial Fe-S protein maturation. 2017. ↩︎
Marti M, et al. (2014). SPG74: mutations in IBA57 cause hereditary spastic paraplegia. 2014. ↩︎