GLRX5 Gene (Protein Coding)

Glutaredoxin 5

GC14P095533
GIFtS:
41
This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] See more...

Aliases for GLRX5 Gene

Aliases for GLRX5 Gene

  • Glutaredoxin 5 2 3 5
  • Glutaredoxin-Related Protein 5, Mitochondrial 3 4
  • Monothiol Glutaredoxin-5 3 4
  • C14orf87 3 4
  • PR01238 2 3
  • GRX5 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Glutaredoxin 5 Homolog (S. Cerevisiae) 2
  • Chromosome 14 Open Reading Frame 87 2
  • Glutaredoxin 5 Homolog 3
  • FLB4739 3
  • PRO1238 3
  • SIDBA3 3
  • SPAHGC 3
  • GLRX5 5
  • PRSA 3

External Ids for GLRX5 Gene

Previous HGNC Symbols for GLRX5 Gene

  • C14orf87

Previous GeneCards Identifiers for GLRX5 Gene

  • GC14P095072
  • GC14P096001
  • GC14P076186

Summaries for GLRX5 Gene

Entrez Gene Summary for GLRX5 Gene

  • This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]

GeneCards Summary for GLRX5 Gene

GLRX5 (Glutaredoxin 5) is a Protein Coding gene. Diseases associated with GLRX5 include Anemia, Sideroblastic, 3, Pyridoxine-Refractory and Spasticity, Childhood-Onset, With Hyperglycinemia. Among its related pathways are PAK Pathway. Gene Ontology (GO) annotations related to this gene include electron transfer activity and 2 iron, 2 sulfur cluster binding. An important paralog of this gene is GLRX3.

UniProtKB/Swiss-Prot Summary for GLRX5 Gene

  • Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084).

Gene Wiki entry for GLRX5 Gene

Additional gene information for GLRX5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLRX5 Gene

Genomics for GLRX5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GLRX5 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
GH14J095530 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 269.7 +1.4 1372 8.8 ZSCAN16 TBP SP1 CEBPA NR2C1 FOXA1 MNT IKZF1 SMAD5 ETS1 GLRX5 SNHG10 SCARNA13 SYNE3 PAPOLA DICER1 ENSG00000258572 TCL1B
GH14J095543 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +12.8 12784 5.4 CEBPA THAP11 ZNF395 CUX1 FOXA2 SMAD4 SAP130 TAL1 ETV4 TAF9B GLRX5 ENSG00000258572 TCL6 HSALNG0103444 SNHG10 TCL1B
GH14J095522 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 19.1 -8.4 -8402 6 MXD4 CEBPA CTCF ELF1 KDM6A THAP11 CEBPB REST GTF2E2 FOXA2 GLRX5 ENSG00000258572 HSALNG0103441 LOC112268122 SNHG10 SYNE3
GH14J095513 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7 -16.2 -16245 6.9 ZBTB10 BCL11A FEZF1 CTCF ZIC2 ZNF610 SIN3A VEZF1 IRF4 SMAD4 ENSG00000258572 SYNE3 GLRX5 HSALNG0103441 LOC101929107
GH14J095561 Enhancer 1 Ensembl ENCODE 8.4 +28.0 28026 1.3 CEBPA DEK ZNF217 CTCF CEBPB SIN3A REST VEZF1 IRF4 SMAD4 GLRX5 piR-34822-098 HSALNG0103444 TCL1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLRX5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLRX5

Top Transcription factor binding sites by QIAGEN in the GLRX5 gene promoter:
  • AML1a
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • Nkx2-5
  • Nkx5-1
  • Pax-5
  • POU2F1
  • POU2F1a

Genomic Locations for GLRX5 Gene

Latest Assembly
chr14:95,533,503-95,544,724
(GRCh38/hg38)
Size:
11,222 bases
Orientation:
Plus strand

Previous Assembly
chr14:96,001,387-96,011,051
(GRCh37/hg19 by Entrez Gene)
Size:
9,665 bases
Orientation:
Plus strand

chr14:95,999,840-96,011,061
(GRCh37/hg19 by Ensembl)
Size:
11,222 bases
Orientation:
Plus strand

Genomic View for GLRX5 Gene

Genes around GLRX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLRX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLRX5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GLRX5 Gene

Proteins for GLRX5 Gene

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  • Protein details for GLRX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SX6-GLRX5_HUMAN
    Recommended name:
    Glutaredoxin-related protein 5, mitochondrial
    Protein Accession:
    Q86SX6
    Secondary Accessions:
    • Q0X088
    • Q3YML0
    • Q86WY3
    • Q8IZ54

    Protein attributes for GLRX5 Gene

    Size:
    157 amino acids
    Molecular mass:
    16628 Da
    Quaternary structure:
    • Homodimer (PubMed:21029046). Interacts with ISCU (PubMed:26100117). Interacts with BOLA1 (PubMed:27532773, PubMed:27532772).
    SequenceCaution:
    • Sequence=CAD62364.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GLRX5 Gene

neXtProt entry for GLRX5 Gene

Protein Expression for GLRX5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GLRX5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GLRX5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GLRX5 Gene

Domains & Families for GLRX5 Gene

Gene Families for GLRX5 Gene

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

Protein Domains for GLRX5 Gene

InterPro:
Blocks:
  • Glutaredoxin
ProtoNet:

Suggested Antigen Peptide Sequences for GLRX5 Gene

GenScript: Design optimal peptide antigens:
  • Monothiol glutaredoxin-5 (GLRX5_HUMAN)
  • PRO1238 (Q9P1N5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86SX6

UniProtKB/Swiss-Prot:

GLRX5_HUMAN :
  • Belongs to the glutaredoxin family. Monothiol subfamily.
Family:
  • Belongs to the glutaredoxin family. Monothiol subfamily.
genes like me logo Genes that share domains with GLRX5: view

Function for GLRX5 Gene

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  6. Cell Lines for research

Molecular function for GLRX5 Gene

UniProtKB/Swiss-Prot Function:
Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084).

Phenotypes From GWAS Catalog for GLRX5 Gene

Gene Ontology (GO) - Molecular Function for GLRX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24606901
GO:0009055 electron transfer activity IEA --
GO:0015035 protein disulfide oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with GLRX5: view
genes like me logo Genes that share phenotypes with GLRX5: view

Human Phenotype Ontology for GLRX5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLRX5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GLRX5 Gene

Localization for GLRX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLRX5 Gene

Mitochondrion matrix.

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 GLRX5 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
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)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLRX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with GLRX5: view

Pathways & Interactions for GLRX5 Gene

PathCards logo

SuperPathways for GLRX5 Gene

SuperPathway Contained pathways
1 PAK Pathway
Antioxidant Action of Vitamin-C
.56
genes like me logo Genes that share pathways with GLRX5: view

Pathways by source for GLRX5 Gene

1 Qiagen pathway for GLRX5 Gene
  • Antioxidant Action of Vitamin-C

Gene Ontology (GO) - Biological Process for GLRX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030097 hemopoiesis ISS --
GO:0044281 small molecule metabolic process TAS --
GO:0044571 [2Fe-2S] cluster assembly IGI 23615440
GO:0055114 oxidation-reduction process IEA --
GO:0106034 protein maturation by [2Fe-2S] cluster transfer IGI 23615440
genes like me logo Genes that share ontologies with GLRX5: view

No data available for SIGNOR curated interactions for GLRX5 Gene

Drugs & Compounds for GLRX5 Gene

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No Compound Related Data Available

Transcripts for GLRX5 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for GLRX5 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLRX5

Alternative Splicing Database (ASD) splice patterns (SP) for GLRX5 Gene

No ASD Table

Relevant External Links for GLRX5 Gene

GeneLoc Exon Structure for
GLRX5

Expression for GLRX5 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLRX5 Gene

mRNA expression in normal human tissues for GLRX5 Gene
mRNA expression by GTEx for GLRX5 GenemRNA expression by BioGPS for GLRX5 Gene

Protein differential expression in normal tissues from HIPED for GLRX5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.1) and Adrenal (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLRX5 Gene



Protein tissue co-expression partners for GLRX5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLRX5

SOURCE GeneReport for Unigene cluster for GLRX5 Gene:

Hs.744943

Evidence on tissue expression from TISSUES for GLRX5 Gene

  • Skin(4.4)
  • Heart(3)
  • Muscle(2.9)
  • Bone marrow(2.7)
  • Liver(2.7)
  • Nervous system(2.7)
  • Kidney(2.6)
  • Spleen(2.3)
  • Intestine(2.3)
  • Blood(2.2)
  • Eye(2.1)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLRX5 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
Regions:
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with GLRX5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GLRX5 Gene

Orthologs for GLRX5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GLRX5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GLRX5 30 31
  • 99.79 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Glrx5 30
  • 88.82 (n)
Mouse
(Mus musculus)
 Mammalia Glrx5 30 17 31
  • 88.6 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GLRX5 30 31
  • 88.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GLRX5 31
  • 80 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GLRX5 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GLRX5 30 31
  • 76.23 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GLRX5 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia glrx5 30
  • 75.07 (n)
Zebrafish
(Danio rerio)
 Actinopterygii glrx5 30 31
  • 76.88 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG14407 30 31
  • 70.54 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002500 30
  • 69.42 (n)
Worm
(Caenorhabditis elegans)
 Secernentea glrx-5 30 31
  • 54.9 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B09636g 30
  • 57.52 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADR053W 30
  • 56.23 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GRX5 30 31 33
  • 54.37 (n)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04098 30
  • 60.2 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4846 31
  • 54 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes grx5 30
  • 50 (n)
Species where no ortholog for GLRX5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GLRX5 Gene

ENSEMBL:
Gene Tree for GLRX5 (if available)
TreeFam:
Gene Tree for GLRX5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLRX5: view image

Paralogs for GLRX5 Gene

Paralogs for GLRX5 Gene

(1) SIMAP similar genes for GLRX5 Gene using alignment to 3 proteins:

  • GLRX5_HUMAN
  • H0YJM6_HUMAN
  • Q9P1N5_HUMAN

Pseudogenes.org Pseudogenes for GLRX5 Gene

genes like me logo Genes that share paralogs with GLRX5: view

Variants for GLRX5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLRX5 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
915891 Pathogenic: Sideroblastic anemia 3, pyridoxine-refractory 95,535,289(+) G/A
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) 		MISSENSE
915892 Pathogenic: Sideroblastic anemia 3, pyridoxine-refractory 95,544,034(+) T/A
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) 		MISSENSE
rs1057524469 Likely Benign: not specified 95,535,170(+) G/C
NM_016417.3(GLRX5):c.81G>C (p.Pro27=) 		SYNONYMOUS
rs11628901 Benign: not specified. - 95,544,087(+) G/Ap.Ala146Thr
NM_016417.3(GLRX5):c.436G>A (p.Ala146Thr) 		MISSENSE
rs121908584 Pathogenic: Sideroblastic anemia 3, pyridoxine-refractory 95,535,383(+) A/G
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GLRX5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GLRX5 Gene

Variant ID Type Subtype PubMed ID
dgv89e55 CNV gain 17911159
esv2749054 CNV deletion 23290073
esv3635400 CNV gain 21293372
nsv1042858 CNV gain 25217958
nsv1046191 CNV gain 25217958
nsv565631 CNV gain 21841781

Variation tolerance for GLRX5 Gene

Gene Damage Index Score: 5.36; 70.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLRX5 Gene

Human Gene Mutation Database (HGMD)
GLRX5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLRX5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLRX5 Gene

Disorders for GLRX5 Gene

MalaCards: The human disease database

(19) MalaCards diseases for GLRX5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
anemia, sideroblastic, 3, pyridoxine-refractory
  • sidba3
spasticity, childhood-onset, with hyperglycinemia
  • spahgc
sideroblastic anemia
  • anemia sideroblastic
far eastern spotted fever
  • rickettsia heilongjiangensis spotted fever
anemia, sideroblastic, 1
  • sidba1
- elite association - COSMIC cancer census association via MalaCards
Search GLRX5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLRX5_HUMAN
  • Anemia, sideroblastic, 3, pyridoxine-refractory (SIDBA3) [MIM:616860]: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive. {ECO:0000269 PubMed:17485548, ECO:0000269 PubMed:20364084, ECO:0000269 PubMed:25342667, ECO:0000269 PubMed:26100117}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Spasticity, childhood-onset, with hyperglycinemia (SPAHGC) [MIM:616859]: An autosomal recessive disorder characterized by childhood-onset of spasticity, spinal lesions, leukodystrophy, optic atrophy in some patients, non-ketotic hyperglycinemia, and defective enzymatic glycine cleavage. Glycine levels in the cerebrospinal fluid are mildly increased in some but not all patients. The increase is less pronounced than in patients with classic non-ketotic hyperglycinemia. {ECO:0000269 PubMed:24334290}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GLRX5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GLRX5: view

No data available for Genatlas for GLRX5 Gene

Publications for GLRX5 Gene

  1. Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. (PMID: 20364084) Ye H … Rouault TA (The Journal of clinical investigation 2010) 3 4 23 74
  2. The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. (PMID: 17485548) Camaschella C … Iolascon A (Blood 2007) 3 4 23 74
  3. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. (PMID: 24334290) Baker PR … Van Hove JL (Brain : a journal of neurology 2014) 3 4 74
  4. Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins. (PMID: 27532772) Uzarska MA … Lill R (eLife 2016) 3 4
  5. Role of Nfu1 and Bol3 in iron-sulfur cluster transfer to mitochondrial clients. (PMID: 27532773) Melber A … Winge DR (eLife 2016) 3 4

ExternalLinks

View latest publications for GLRX5 gene in Mastermind

Products for GLRX5 Gene

  • Addgene plasmids for GLRX5

Sources for GLRX5 Gene