ISCA1 Chromosome 9
Iron-sulfur cluster assembly 1
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What This Gene Does
ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
9q21.33
Ensembl
ENSG00000135070
Associated Conditions (2)
Fatal multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome 5
Key Variants
RS776679653
Conflicting classifications of pathogenicity
Fatal multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 5, Fatal multiple mitochondrial dysfunctions syndrome
Health Risk
RS1587823007
Pathogenic
Multiple mitochondrial dysfunctions syndrome 5, Multiple mitochondrial dysfunctions syndrome 5
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776679653 | Health Risk | Conflicting classifications of pathogenicity | Fatal multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 5, Fatal multiple mitochondrial dysfunctions syndrome |
| RS1587823007 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 5, Multiple mitochondrial dysfunctions syndrome 5 |