Entity Details

Primary name ISCA2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86U28
EntryNameISCA2_HUMAN
FullNameIron-sulfur cluster assembly 2 homolog, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length154
SequenceStatuscomplete
DateCreated2007-02-06
DateModified2021-06-02

Ontological Relatives

GenesISCA2

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

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000361 FeS cluster biogenesisDomainDomain
IPR016092 FeS cluster insertion proteinFamilyFamily
IPR017870 FeS cluster insertion, C-terminal, conserved siteSiteConserved site
IPR035903 HesB-like domain superfamilyFamilyHomologous superfamily

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.