Version: 8.0.0Date: Tue Jan 28 2025
Gene
IBA57
- Species
- Homo sapiens
- Symbol
- IBA57
- Name
- iron-sulfur cluster assembly factor IBA57
- Synonyms
- C1orf69
- FLJ12734
- Biotype
- protein coding gene
- Automated Description
- Enables RNA binding activity. Predicted to be involved in iron-sulfur cluster assembly. Located in mitochondrion. Implicated in hereditary spastic paraplegia 74 and multiple mitochondrial dysfunctions syndrome 3.
- RGD Description
- The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR22602
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr1:228165804...228182257 + (16.45 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction