Aliases for IBA57 Gene
- Iron-Sulfur Cluster Assembly Factor IBA57 2 3 5
- Iron-Sulfur Cluster Assembly Factor For Biotin Synthase- And Aconitase-Like Mitochondrial Proteins, With A Mass Of 57kDa 2 3
- IBA57 Homolog, Iron-Sulfur Cluster Assembly 2 3
- Putative Transferase CAF17, Mitochondrial 3 4
- C1orf69 3 4
- IBA57, Iron-Sulfur Cluster Assembly Homolog (S. Cerevisiae) 2
- IBA57, Iron-Sulfur Cluster Assembly Homolog 3
External Ids for IBA57 Gene
Previous HGNC Symbols for IBA57 Gene
Previous GeneCards Identifiers for IBA57 Gene
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]
GeneCards Summary for IBA57 Gene
IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57) is a Protein Coding gene. Diseases associated with IBA57 include Multiple Mitochondrial Dysfunctions Syndrome 3 and Spastic Paraplegia 74, Autosomal Recessive. Gene Ontology (GO) annotations related to this gene include aminomethyltransferase activity.
UniProtKB/Swiss-Prot Summary for IBA57 Gene
Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway.