Entity Details

Primary name ISCA2
Entity type gene
Source Source Link

Details

PrimaryID122961
RefseqGeneNG_007117
SymbolISCA2
Nameiron-sulfur cluster assembly 2
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsISCA2_HUMAN

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0016226 iron-sulfur cluster assembly
GO:0051537 2 iron, 2 sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0106035 protein maturation by [4Fe-4S] cluster transfer

Diseases

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Disease IDSourceNameDescription
616370 OMIMMultiple mitochondrial dysfunctions syndrome 4 (MMDS4)A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. The disease is caused by variants affecting the gene represented in this entry.