Gene table of ISCU : iron-sulfur cluster assembly enzyme

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ISCU	OMIM link	Number of associated genes	genes
255125	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	ClinVar, OMIM	link to OMIM	1	ISCU

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism	R-HSA-1430728	2.34
Mitochondrial iron-sulfur cluster biogenesis	R-HSA-1362409	9.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
metal ion binding	GO:0046872	1.41
transferase activity, transferring sulfur-containing groups	GO:0016782	5.52
4 iron, 4 sulfur cluster binding	GO:0051539	6.0
transition metal ion binding	GO:0046914	2.48
catalytic activity	GO:0003824	1.05
iron-sulfur cluster binding	GO:0051536	5.55
2 iron, 2 sulfur cluster binding	GO:0051537	6.56
ion binding	GO:0043167	1.36
ferrous iron binding	GO:0008198	6.65
iron-sulfur transferase activity	GO:0036455	9.74
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
metal cluster binding	GO:0051540	5.55
iron ion binding	GO:0005506	4.65
structural molecule activity	GO:0005198	3.1
protein complex scaffold	GO:0032947	5.5