ISCU

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ISCU
Protein ISCU PDB 1wfz.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ISCU, 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU, iron-sulfur cluster assembly enzyme
External IDs MGI: 1913633 HomoloGene: 6991 GeneCards: ISCU
RNA expression pattern
PBB GE ISCU 209075 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001301140
NM_001301141
NM_014301
NM_213595
NM_001320042

NM_025526

RefSeq (protein)

NP_001288069
NP_001288070
NP_001306971
NP_055116
NP_998760

NP_079802.1
NP_079802

Location (UCSC) Chr 12: 108.56 – 108.57 Mb Chr 5: 113.77 – 113.78 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene.[3][4][5]

A deficiency of ISCU is associated with a mitochondrial myopathy with lifelong exercise intolerance where only minor exertion causes tachycardia, shortness of breath, muscle weakness and myalgia.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Hwang DM, Dempsey A, Tan KT, Liew CC (Nov 1996). "A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution". Journal of Molecular Evolution. 43 (5): 536–40. doi:10.1007/BF02337525. PMID 8875867. 
  4. ^ Tong WH, Rouault T (Nov 2000). "Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells". The EMBO Journal. 19 (21): 5692–700. doi:10.1093/emboj/19.21.5692. PMC 305809Freely accessible. PMID 11060020. 
  5. ^ "Entrez Gene: ISCU iron-sulfur cluster scaffold homolog (E. coli)". 
  6. ^ Mochel F, Haller RG (2009-03-31). "Myopathy with Deficiency of ISCU". GeneReviews.  Updated 2011 Sep 1

Further reading[edit]

External links[edit]