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IBA57 iron-sulfur cluster assembly factor IBA57

Gene ID: 200205, updated on 23-Nov-2021
Gene type: protein coding
Also known as: MMDS3; SPG74; C1orf69

Summary

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]

Genomic context

Location:
1q42.13
Sequence:
Chromosome: 1; NC_000001.11 (228165804..228182257)
Total number of exons:
4

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