IBA57 Chromosome 1
Iron-sulfur cluster assembly factor IBA57
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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000181873
Associated Conditions (5)
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Inborn genetic diseases
C1orf69/IBA57-related disorder
IBA57-related disorder
Key Variants
RS1571918954
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
Health Risk
RS199781237
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Inborn genetic diseases
Health Risk
RS2527921101
Conflicting classifications of pathogenicity
C1orf69/IBA57-related disorder, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
Health Risk
RS577050962
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
Health Risk
RS754620334
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
Health Risk
RS764566232
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
Health Risk
RS771929217
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Inborn genetic diseases
Health Risk
RS984974466
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1002617439
Likely pathogenic
Health Risk
RS1202432368
Likely pathogenic
Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
Health Risk
RS1250537283
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
Health Risk
RS1298056442
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1571918954 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS199781237 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Inborn genetic diseases |
| RS2527921101 | Health Risk | Conflicting classifications of pathogenicity | C1orf69/IBA57-related disorder, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74 |
| RS577050962 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS754620334 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74 |
| RS764566232 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS771929217 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Inborn genetic diseases |
| RS984974466 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1002617439 | Health Risk | Likely pathogenic | — |
| RS1202432368 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74 |
| RS1250537283 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1298056442 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1364436691 | Health Risk | Likely pathogenic | — |
| RS2527899567 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS2527901415 | Health Risk | Likely pathogenic | — |
| RS781627051 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS936626275 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1261081427 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1419333963 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1454220856 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1553263680 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1553264669 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1553264725 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1553264773 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1571918251 | Health Risk | Pathogenic | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74 |
| RS2034844971 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS2034846986 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS2034987478 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS2034988017 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS2124976652 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS2527901443 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS587777016 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS765132163 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS765926471 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS769063859 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS775646159 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Hereditary spastic paraplegia 74 |
| RS778374267 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS876657407 | Health Risk | Pathogenic | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74 |
| RS1053773776 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1339829600 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS1558123212 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74 |
| RS73095427 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3 |
| RS757794637 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3, Inborn genetic diseases |