Protein Information

Name ISCU
Synonyms 2310020H20Rik; ISCU; ISU 2; ISU2; Iron sulfur cluster assembly enzyme; Iron sulfur cluster assembly enzyme ISCU; IscU iron sulfur cluster scaffold homolog (E. coli); NIFU…

Compound Information

Name sulfur
CAS sulfur

Reference List

PubMed Abstract RScore(About this table)
20206689 Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C, Chrzanowska-Lightowlers ZM, Taylor RW, Bindoff LA: Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochim Biophys Acta. 2010 Mar 4.

Consistent with the recognised role of ISCU, we found abnormal activities of respiratory chain complexes containing iron-sulfur clusters in patient muscle.
92(1,1,2,7) Details
20064440 Hoff KG, Culler SJ, Nguyen PQ, McGuire RM, Silberg JJ, Smolke CD: In vivo fluorescent detection of Fe-S clusters coordinated by human GRX2. . Chem Biol. 2009 Dec 24;16(12):1299-308.

In addition, we find that maximal fluorescence in the cytosol of mammalian cells requires the iron-sulfur cluster assembly proteins ISCU and NFS1.
6(0,0,1,1) Details
19846308 Kollberg G, Holme E: Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy. Neuromuscul Disord. 2009 Dec;19(12):833-6. Epub 2009 Oct 20.


Iron-sulphur cluster deficiency myopathy is caused by a deep intronic mutation in ISCU resulting in inclusion of a cryptic exon in the mature mRNA.
2(0,0,0,2) Details
19965627 Crooks DR, Ghosh MC, Haller RG, Tong WH, Rouault TA: Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery. Blood. 2010 Jan 28;115(4):860-9. Epub 2009 Nov 25.

Mammalian ferrochelatase, the terminal enzyme in the heme biosynthetic pathway, possesses an iron-sulfur [2Fe-2S] cluster that does not participate in catalysis.
We investigated ferrochelatase expression in iron-deficient erythropoietic tissues of mice lacking iron regulatory protein 2, in iron-deficient murine erythroleukemia cells, and in human patients with ISCU myopathy.
2(0,0,0,2) Details
19567699 Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E: Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. Brain. 2009 Aug;132(Pt 8):2170-9. Epub 2009 Jun 30.

2(0,0,0,2) Details