ISCA2 Chromosome 14
Iron-sulfur cluster assembly 2
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What This Gene Does
The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000165898
Associated Conditions (5)
Multiple mitochondrial dysfunctions syndrome 4
Inborn genetic diseases
ISCA2-related disorder
8 conditions
Fatal multiple mitochondrial dysfunctions syndrome
Key Variants
RS1595231072
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4
Health Risk
RS201157942
Conflicting classifications of pathogenicity
Health Risk
RS201908228
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 4, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 4
Health Risk
RS371830968
Conflicting classifications of pathogenicity
ISCA2-related disorder, ISCA2-related disorder
Health Risk
RS778755775
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4
Health Risk
RS191915715
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4
Health Risk
RS779995225
Likely pathogenic
Health Risk
RS747996482
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS730882246
Pathogenic/Likely pathogenic
8 conditions, Multiple mitochondrial dysfunctions syndrome 4, Fatal multiple mitochondrial dysfunctions syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1595231072 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4 |
| RS201157942 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201908228 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 4, Inborn genetic diseases, Multiple mitochondrial dysfunctions syndrome 4 |
| RS371830968 | Health Risk | Conflicting classifications of pathogenicity | ISCA2-related disorder, ISCA2-related disorder |
| RS778755775 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4 |
| RS191915715 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4 |
| RS779995225 | Health Risk | Likely pathogenic | — |
| RS747996482 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS730882246 | Health Risk | Pathogenic/Likely pathogenic | 8 conditions, Multiple mitochondrial dysfunctions syndrome 4, Fatal multiple mitochondrial dysfunctions syndrome |