This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol o... See more...

Aliases for ISCU Gene

Aliases for ISCU Gene

  • Iron-Sulfur Cluster Assembly Enzyme 2 3 5
  • Iron-Sulfur Cluster Assembly Enzyme ISCU, Mitochondrial 3 4
  • NifU-Like N-Terminal Domain-Containing Protein 3 4
  • NIFUN 3 4
  • HnifU 2 3
  • ISU2 2 3
  • IscU Iron-Sulfur Cluster Scaffold Homolog (E. Coli) 2
  • Iron-Sulfur Cluster Scaffold Homolog (E. Coli) 2
  • IscU Iron-Sulfur Cluster Scaffold Homolog 3
  • NifU-Like N-Terminal Domain Containing 2
  • NifU-Like Protein 4
  • 2310020H20Rik 3
  • NIFU 3
  • ISCU 5
  • HML 3

External Ids for ISCU Gene

Previous HGNC Symbols for ISCU Gene

  • NIFUN

Previous GeneCards Identifiers for ISCU Gene

  • GC12P107458
  • GC12P107459
  • GC12P108956
  • GC12P106020

Summaries for ISCU Gene

Entrez Gene Summary for ISCU Gene

  • This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]

GeneCards Summary for ISCU Gene

ISCU (Iron-Sulfur Cluster Assembly Enzyme) is a Protein Coding gene. Diseases associated with ISCU include Myopathy With Lactic Acidosis, Hereditary and Lactic Acidosis. Among its related pathways are Mitochondrial iron-sulfur cluster biogenesis and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot Summary for ISCU Gene

  • Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins (PubMed:11060020). First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. Cluster assembly on ISCU depends on the function of the cysteine desulfurase complex NFS1-LYRM4/ISD11, which serves as the sulfur donor for cluster synthesis, the iron-binding protein frataxin as the putative iron donor, and the electron transfer chain comprised of ferredoxin reductase and ferredoxin, which receive their electrons from NADH (By similarity).
  • [Isoform 2]: Functions as a cytoplasmic scaffold protein for the de novo synthesis of iron-sulfur clusters in the cytoplasm.

Gene Wiki entry for ISCU Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISCU Gene

Genomics for ISCU Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ISCU Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J108559 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 617.3 +4.0 4022 12.6 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 REST SART3 ISCU FICD UBE3B PWP1 PRDM4 HSALNG0093830 HSALNG0093831 TMEM119
GH12J108663 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +104.6 104554 5.8 SP1 GATAD2A CTCF ATF7 ZNF629 TFE3 IKZF1 NFKBIZ ZNF692 RCOR2 CORO1C SELPLG SSH1 ISCU SART3 ENSG00000257221 MVK ACACB RF00066-053 RNU7-169P
GH12J108514 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8.3 -45.8 -45843 2.4 SP1 CREB1 PRDM10 ZNF629 IKZF1 NFKBIZ ZNF692 POLR2A BACH1 FOS FICD LINC01498 PWP1 SART3 KCTD10 ALKBH2 UBE3B ISCU
GH12J108540 Enhancer 0.9 Ensembl ENCODE 17.3 -19.8 -19840 2.8 ZNF143 IKZF2 TRIM22 ARID3A DPF2 RELB ASH2L ZBTB40 ARNT ELF1 FICD ISCU LINC01498 lnc-TMEM119-1 lnc-TMEM119-2 SART3
GH12J108595 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 +35.8 35822 3 ARHGAP35 ZSCAN4 ZNF24 ZNF600 ZKSCAN1 HDAC2 USF1 ZNF274 NFXL1 BCOR TMEM119 lnc-SELPLG-2 SART3 UBE3B PRDM4 ISCU RF00017-1249
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISCU on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISCU

Top Transcription factor binding sites by QIAGEN in the ISCU gene promoter:
  • AML1a
  • C/EBPalpha
  • CUTL1
  • E4BP4
  • Evi-1
  • FOXO4
  • NCX
  • Pax-5
  • XBP-1

Genomic Locations for ISCU Gene

Genomic Locations for ISCU Gene
chr12:108,561,463-108,569,384
(GRCh38/hg38)
Size:
7,922 bases
Orientation:
Plus strand
chr12:108,956,294-108,963,160
(GRCh37/hg19)
Size:
6,867 bases
Orientation:
Plus strand

Genomic View for ISCU Gene

Genes around ISCU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISCU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISCU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISCU Gene

Proteins for ISCU Gene

  • Protein details for ISCU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1K1-ISCU_HUMAN
    Recommended name:
    Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
    Protein Accession:
    Q9H1K1
    Secondary Accessions:
    • Q6P713
    • Q99617
    • Q9H1K2

    Protein attributes for ISCU Gene

    Size:
    167 amino acids
    Molecular mass:
    17999 Da
    Quaternary structure:
    • Binds NFS1 (PubMed:11060020). Interacts with HSCB (PubMed:20668094). Interacts with GLRX5 (PubMed:26100117). Interacts with HSPA9 (PubMed:26702583). Interacts with HSC20 (PubMed:29309586).

    Three dimensional structures from OCA and Proteopedia for ISCU Gene

    Alternative splice isoforms for ISCU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISCU Gene

Post-translational modifications for ISCU Gene

  • Ubiquitination at Lys54, Lys57, Lys82, Lys91, Lys112, Lys121, and Lys147
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ISCU Gene

Domains & Families for ISCU Gene

Gene Families for ISCU Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ISCU Gene

InterPro:
Blocks:
  • Nitrogen-fixing NifU-like, N-terminal
  • FeS cluster assembly scaffold IscU
ProtoNet:

Suggested Antigen Peptide Sequences for ISCU Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32689 fis, clone TESTI2000207, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial (B3KQ30_HUMAN)
  • cDNA FLJ51257, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial (B4DNC9_HUMAN)
  • NifU-like protein (ISCU_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1K1

UniProtKB/Swiss-Prot:

ISCU_HUMAN :
  • Belongs to the NifU family.
Family:
  • Belongs to the NifU family.
genes like me logo Genes that share domains with ISCU: view

Function for ISCU Gene

Molecular function for ISCU Gene

UniProtKB/Swiss-Prot Function:
Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins (PubMed:11060020). First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. Cluster assembly on ISCU depends on the function of the cysteine desulfurase complex NFS1-LYRM4/ISD11, which serves as the sulfur donor for cluster synthesis, the iron-binding protein frataxin as the putative iron donor, and the electron transfer chain comprised of ferredoxin reductase and ferredoxin, which receive their electrons from NADH (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Functions as a cytoplasmic scaffold protein for the de novo synthesis of iron-sulfur clusters in the cytoplasm.

Phenotypes From GWAS Catalog for ISCU Gene

Gene Ontology (GO) - Molecular Function for ISCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA,TAS 11060020
GO:0005515 protein binding IPI 16527810
GO:0008198 ferrous iron binding IBA 21873635
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with ISCU: view
genes like me logo Genes that share phenotypes with ISCU: view

Human Phenotype Ontology for ISCU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISCU

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ISCU Gene

Localization for ISCU Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISCU Gene

[Isoform 1]: Mitochondrion.
[Isoform 2]: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISCU gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ISCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus TAS 16527810
GO:0005737 cytoplasm IBA,IDA 11060020
GO:0005739 mitochondrion IEA,IDA 11060020
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ISCU: view

Pathways & Interactions for ISCU Gene

PathCards logo

SuperPathways for ISCU Gene

genes like me logo Genes that share pathways with ISCU: view

Pathways by source for ISCU Gene

2 Reactome pathways for ISCU Gene

SIGNOR curated interactions for ISCU Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ISCU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis IBA 21873635
GO:0016226 iron-sulfur cluster assembly IEA,TAS 11060020
GO:0044281 small molecule metabolic process TAS --
GO:1902958 positive regulation of mitochondrial electron transport, NADH to ubiquinone IMP 20436681
GO:1904234 positive regulation of aconitate hydratase activity IMP 20436681
genes like me logo Genes that share ontologies with ISCU: view

Drugs & Compounds for ISCU Gene

(2) Drugs for ISCU Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1560

(2) Additional Compounds for ISCU Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ISCU: view

Transcripts for ISCU Gene

mRNA/cDNA for ISCU Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISCU

Alternative Splicing Database (ASD) splice patterns (SP) for ISCU Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8:

Relevant External Links for ISCU Gene

GeneLoc Exon Structure for
ISCU

Expression for ISCU Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ISCU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ISCU Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1) and Heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ISCU Gene



Protein tissue co-expression partners for ISCU Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISCU

SOURCE GeneReport for Unigene cluster for ISCU Gene:

Hs.615131

mRNA Expression by UniProt/SwissProt for ISCU Gene:

Q9H1K1-ISCU_HUMAN
Tissue specificity: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta.

Evidence on tissue expression from TISSUES for ISCU Gene

  • Nervous system(4.9)
  • Heart(4.7)
  • Liver(4.5)
  • Muscle(3.3)
  • Kidney(3)
  • Blood(2.9)
  • Skin(2.8)
  • Intestine(2.7)
  • Adrenal gland(2.6)
  • Thyroid gland(2.5)
  • Eye(2.5)
  • Lung(2.4)
  • Spleen(2.4)
  • Stomach(2.3)
  • Bone marrow(2.2)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ISCU Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
General:
  • blood
  • bone marrow
  • red blood cell
genes like me logo Genes that share expression patterns with ISCU: view

No data available for mRNA differential expression in normal tissues for ISCU Gene

Orthologs for ISCU Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISCU Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ISCU 30
  • 99.6 (n)
-- 31
  • 99 (a)
OneToMany
NIFUN 31
  • 99 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ISCU 31
  • 99 (a)
OneToOne
LOC477527 30
  • 93.41 (n)
Cow
(Bos Taurus)
Mammalia ISCU 30 31
  • 90.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Iscu 30
  • 88.22 (n)
Mouse
(Mus musculus)
Mammalia Iscu 30 17 31
  • 87.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ISCU 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ISCU 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ISCU 30 31
  • 75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ISCU 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia iscu 30
  • 78.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia nifu-pending-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ISCU (2 of 2) 31
  • 77 (a)
OneToMany
iscub 30 31
  • 73.43 (n)
OneToMany
wufj08f02 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005813 30
  • 69.08 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9836 30 31
  • 68.28 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y45F10D.4 30 31
  • 63.7 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISU2 30 31 33
  • 65.9 (n)
OneToMany
ISU1 31
  • 60 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07161g 30
  • 64.49 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR112C 30
  • 60.69 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ISU3 30
  • 65.15 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6801 30
Rice
(Oryza sativa)
Liliopsida Os01g0662600 30
  • 65.91 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 70 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes isu1 30
  • 62.93 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05778 30
  • 59.33 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4350 30
Species where no ortholog for ISCU was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ISCU Gene

ENSEMBL:
Gene Tree for ISCU (if available)
TreeFam:
Gene Tree for ISCU (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISCU: view image

Paralogs for ISCU Gene

Pseudogenes.org Pseudogenes for ISCU Gene

genes like me logo Genes that share paralogs with ISCU: view

No data available for Paralogs for ISCU Gene

Variants for ISCU Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISCU Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
672371 Benign: not provided 108,567,452(+) A/G INTRON_VARIANT
677599 Likely Benign: not provided 108,568,706(+) T/C THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
679954 Likely Benign: not provided 108,562,919(+) C/T INTRON_VARIANT
681975 Benign: not provided 108,567,002(+) A/G INTRON_VARIANT
681977 Benign: not provided 108,568,592(+) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ISCU Gene

Structural Variations from Database of Genomic Variants (DGV) for ISCU Gene

Variant ID Type Subtype PubMed ID
nsv560112 CNV loss 21841781

Variation tolerance for ISCU Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISCU Gene

Human Gene Mutation Database (HGMD)
ISCU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISCU

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISCU Gene

Disorders for ISCU Gene

MalaCards: The human disease database

(13) MalaCards diseases for ISCU Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy with lactic acidosis, hereditary
  • hml
lactic acidosis
  • acidosis lactic
myopathy with deficiency of iscu
  • myopathy with exercise intolerance, swedish type
myopathy
  • muscular diseases
combined oxidative phosphorylation deficiency 19
  • coxpd19
- elite association - COSMIC cancer census association via MalaCards
Search ISCU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ISCU_HUMAN
  • Myopathy with exercise intolerance Swedish type (MEIS) [MIM:255125]: Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. {ECO:0000269 PubMed:18304497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ISCU

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ISCU: view

No data available for Genatlas for ISCU Gene

Publications for ISCU Gene

  1. Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells. (PMID: 11060020) Tong WH … Rouault T (The EMBO journal 2000) 2 3 4 23
  2. A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution. (PMID: 8875867) Hwang DM … Liew CC (Journal of molecular evolution 1996) 2 3 4 23
  3. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. (PMID: 18304497) Mochel F … Haller RG (American journal of human genetics 2008) 3 4 23
  4. Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly. (PMID: 26702583) Shan Y … Cortopassi G (Mitochondrion 2016) 3 4
  5. Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein. (PMID: 26100117) Liu G … Nie G (Journal of cellular biochemistry 2016) 3 4

Products for ISCU Gene

Sources for ISCU Gene