This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008] See more...

Aliases for DECR1 Gene

Aliases for DECR1 Gene

  • 2,4-Dienoyl-CoA Reductase 1 2 3 5
  • SDR18C1 2 3 4
  • 2,4-Dienoyl-CoA Reductase [(3E)-Enoyl-CoA-Producing], Mitochondrial 3 4
  • Short Chain Dehydrogenase/Reductase Family 18C Member 1 3 4
  • 2,4-Dienoyl-CoA Reductase 1, Mitochondrial 2 3
  • DECR 3 4
  • Short Chain Dehydrogenase/Reductase Family 18C, Member 1 2
  • 2,4-Dienoyl-CoA Reductase, Mitochondrial 3
  • 2,4-Dienoyl-CoA Reductase [NADPH] 4
  • 4-Enoyl-CoA Reductase [NADPH] 4
  • 4-Enoyl-CoA Reductase 3
  • EC 1.3.1.124 4
  • NADPH 3
  • DECR1 5

External Ids for DECR1 Gene

Previous HGNC Symbols for DECR1 Gene

  • DECR

Previous GeneCards Identifiers for DECR1 Gene

  • GC08P089445
  • GC08P090745
  • GC08P090970
  • GC08P091082
  • GC08P086223

Summaries for DECR1 Gene

Entrez Gene Summary for DECR1 Gene

  • This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]

GeneCards Summary for DECR1 Gene

DECR1 (2,4-Dienoyl-CoA Reductase 1) is a Protein Coding gene. Diseases associated with DECR1 include 2,4-Dienoyl-Coa Reductase Deficiency and Hyperlysinemia, Type I. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADPH binding. An important paralog of this gene is DECR2.

UniProtKB/Swiss-Prot Summary for DECR1 Gene

  • Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DECR1 Gene

Genomics for DECR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DECR1 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
GH08J089999 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.1 99 3.8 ZNF654 ZNF207 MYC SSRP1 ZNF592 POLR2A YY1 MXD4 NONO CTCF NBN DECR1 NONHSAG050709.2 C8orf88 RIPK2-DT
GH08J090004 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 18.6 +4.6 4557 2.3 CTCF HES1 IRF4 TRIM25 EBF1 SPI1 ELF1 EGR1 IKZF1 HDGF DECR1 NBN NONHSAG050709.2 MN309174-632 CALB1
GH08J089725 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 10.9 -273.2 -273201 5.7 BCLAF1 SP1 ZNF654 ZNF592 CEBPA NFIC YY1 NONO CTCF CEBPB RF00017-6605 RIPK2-DT RIPK2 NBN DECR1 OSGIN2 HSALNG0066809-004 HSALNG0066809-005 RF00017-6606 HSALNG0066809-002
GH08J090083 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 10.6 +80.8 80796 2 IKZF1 POLR2A REST MNT CTCF ZBTB7B SIN3A KLF9 CTBP1 RAD21 CALB1 NBN DECR1 piR-32559-436 lnc-NBN-3 lnc-CALB1-1
GH08J089824 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -175.5 -175504 3.4 BCLAF1 MAFF SAP130 DMAP1 ZNF316 NFE2 MAFK HNF4A MAFG IKZF1 ENSG00000275103 lnc-NBN-5 RIPK2-DT NBN DECR1 RIPK2 OSGIN2 COX6B1P6 HSALNG0066832 HSALNG0066829-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DECR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DECR1

Top Transcription factor binding sites by QIAGEN in the DECR1 gene promoter:
  • AP-1
  • p53
  • STAT3
  • TBP

Genomic Locations for DECR1 Gene

Latest Assembly
chr8:90,001,405-90,053,633
(GRCh38/hg38)
Size:
52,229 bases
Orientation:
Plus strand

Previous Assembly
chr8:91,013,705-91,065,861
(GRCh37/hg19 by Entrez Gene)
Size:
52,157 bases
Orientation:
Plus strand

chr8:91,013,633-91,064,320
(GRCh37/hg19 by Ensembl)
Size:
50,688 bases
Orientation:
Plus strand

Genomic View for DECR1 Gene

Genes around DECR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DECR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DECR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DECR1 Gene

Proteins for DECR1 Gene

  • Protein details for DECR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16698-DECR_HUMAN
    Recommended name:
    2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial
    Protein Accession:
    Q16698
    Secondary Accessions:
    • B7Z6B8
    • Q2M304
    • Q93085

    Protein attributes for DECR1 Gene

    Size:
    335 amino acids
    Molecular mass:
    36068 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for DECR1 Gene

    Alternative splice isoforms for DECR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DECR1 Gene

Post-translational modifications for DECR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DECR1 Gene

Domains & Families for DECR1 Gene

Gene Families for DECR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DECR1 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature

Suggested Antigen Peptide Sequences for DECR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50204, highly similar to 2,4-dienoyl-CoA reductase, mitochondrial (EC 1.3.1.34) (B7Z6B8_HUMAN)
  • 2,4-dienoyl-CoA reductase [NADPH] (DECR_HUMAN)
  • 2,4-dienoyl-CoA reductase (Q7LDK6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16698

UniProtKB/Swiss-Prot:

DECR_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily.
genes like me logo Genes that share domains with DECR1: view

Function for DECR1 Gene

Molecular function for DECR1 Gene

UniProtKB/Swiss-Prot Function:
Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (2E,4E)-dienoyl-CoA + H(+) + NADPH = a 4,5-saturated-(3E)-enoyl-CoA + NADP(+); Xref=Rhea:RHEA:45912, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:85101, ChEBI:CHEBI:85493; EC=1.3.1.124; Evidence={ECO:0000269|PubMed:15531764};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (2E,4Z)-dienoyl-CoA + H(+) + NADPH = a 4,5-saturated-(3E)-enoyl-CoA + NADP(+); Xref=Rhea:RHEA:61892, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:85099, ChEBI:CHEBI:85493; EC=1.3.1.124; Evidence={ECO:0000269|PubMed:15531764};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,4E)-hexadienoyl-CoA + H(+) + NADPH = (3E)-hexenoyl-CoA + NADP(+); Xref=Rhea:RHEA:44912, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:84788, ChEBI:CHEBI:84790; Evidence={ECO:0000269|PubMed:15531764};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.7 uM for NADPH {ECO:0000269|PubMed:15531764}; KM=14.3 uM for trans-2,trans-4-hexadienoyl-CoA {ECO:0000269|PubMed:15531764}; Vmax=30.3 umol/min/mg enzyme {ECO:0000269|PubMed:15531764};
GENATLAS Biochemistry:
2-4-dienoyl-CoA reductase,mitochondrial,auxiliary enzyme of beta oxidation participating in the metabolism of (poly) unsaturated fatty enoyl-CoA esters

Enzyme Numbers (IUBMB) for DECR1 Gene

Phenotypes From GWAS Catalog for DECR1 Gene

Gene Ontology (GO) - Molecular Function for DECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008670 2,4-dienoyl-CoA reductase (NADPH) activity IEA,IDA 15531764
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding IPI 15531764
GO:0070402 NADPH binding IDA 15531764
genes like me logo Genes that share ontologies with DECR1: view
genes like me logo Genes that share phenotypes with DECR1: view

Animal Models for DECR1 Gene

MGI Knock Outs for DECR1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DECR1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DECR1 Gene

Localization for DECR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DECR1 Gene

Mitochondrion.

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 DECR1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS 7818482
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DECR1: view

Pathways & Interactions for DECR1 Gene

genes like me logo Genes that share pathways with DECR1: view

Gene Ontology (GO) - Biological Process for DECR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0055114 oxidation-reduction process IEA --
GO:0120162 positive regulation of cold-induced thermogenesis ISS 19578400
genes like me logo Genes that share ontologies with DECR1: view

No data available for SIGNOR curated interactions for DECR1 Gene

Drugs & Compounds for DECR1 Gene

(3) Drugs for DECR1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADP Experimental Pharma Target 0
6-METHYL-2(PROPANE-1-SULFONYL)-2H-THIENO[3,2-D][1,2,3]DIAZABORININ-1-OL Experimental Pharma Target 0
NADPH Experimental Pharma 0

(1) Additional Compounds for DECR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
trans-3-Hexenoyl-CoA
  • (e)-S-3-Hexenoate
  • (e)-S-3-Hexenoate CoA
  • (e)-S-3-Hexenoate coenzyme A
  • (e)-S-3-Hexenoic acid
  • 3-trans-Hexenoylcoenzyme A
6599-65-1
genes like me logo Genes that share compounds with DECR1: view

Transcripts for DECR1 Gene

mRNA/cDNA for DECR1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
19 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 DECR1

Alternative Splicing Database (ASD) splice patterns (SP) for DECR1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7
SP1: - - - - -
SP2:
SP3: -
SP4:
SP5: -

Relevant External Links for DECR1 Gene

GeneLoc Exon Structure for
DECR1

Expression for DECR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DECR1 Gene

mRNA differential expression in normal tissues according to GTEx for DECR1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.8) and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for DECR1 Gene

This gene is overexpressed in Heart (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DECR1 Gene



Protein tissue co-expression partners for DECR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DECR1

SOURCE GeneReport for Unigene cluster for DECR1 Gene:

Hs.492212

mRNA Expression by UniProt/SwissProt for DECR1 Gene:

Q16698-DECR_HUMAN
Tissue specificity: Heart = liver = pancreas > kidney >> skeletal muscle = lung.

Evidence on tissue expression from TISSUES for DECR1 Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Blood(4.4)
  • Heart(4.1)
  • Muscle(3)
  • Kidney(2.5)
  • Skin(2.4)
  • Intestine(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DECR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
Thorax:
  • lung
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DECR1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DECR1 Gene

Orthologs for DECR1 Gene

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

Orthologs for DECR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DECR1 29 30
  • 99.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DECR1 29 30
  • 90.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DECR1 29 30
  • 88.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Decr1 29 16 30
  • 82.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Decr1 29
  • 82.29 (n)
Oppossum
(Monodelphis domestica)
Mammalia DECR1 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DECR1 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DECR1 29 30
  • 78.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DECR1 30
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia decr1 29
  • 71.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22226 29
Zebrafish
(Danio rerio)
Actinopterygii decr1 29 30
  • 67.95 (n)
OneToOne
wufe38b07 29
Worm
(Caenorhabditis elegans)
Secernentea F53C11.3 30 31
  • 50 (a)
OneToMany
decr-1.3 30
  • 47 (a)
OneToMany
T05C12.3 31
  • 47 (a)
W01C9.4 31
  • 46 (a)
decr-1.2 30
  • 45 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPS19 30
  • 33 (a)
OneToMany
Species where no ortholog for DECR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 DECR1 Gene

ENSEMBL:
Gene Tree for DECR1 (if available)
TreeFam:
Gene Tree for DECR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DECR1: view image
Alliance of Genome Resources:
Additional Orthologs for DECR1

Paralogs for DECR1 Gene

Paralogs for DECR1 Gene

(4) SIMAP similar genes for DECR1 Gene using alignment to 9 proteins:

  • DECR_HUMAN
  • B7Z6B8_HUMAN
  • E5RFV2_HUMAN
  • E5RGS6_HUMAN
  • E5RHR1_HUMAN
  • E5RID6_HUMAN
  • E5RJD2_HUMAN
  • E5RJG7_HUMAN
  • H0YAW3_HUMAN
genes like me logo Genes that share paralogs with DECR1: view

Variants for DECR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DECR1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs137904244 Benign: not provided 90,020,923(+) T/C
NM_001359.2(DECR1):c.432T>C (p.Asn144=)
SYNONYMOUS
rs138725804 Benign: not provided 90,019,121(+) T/C
NM_001359.2(DECR1):c.366T>C (p.Asp122=)
SYNONYMOUS
rs1451324144 Uncertain Significance: 2,4-Dienoyl-CoA reductase deficiency 90,017,256(+) G/A
NM_001359.2(DECR1):c.202G>A (p.Gly68Ser)
MISSENSE
rs145323335 Likely Benign: 2,4-Dienoyl-CoA reductase deficiency 90,017,131(+) G/A
NM_001359.2(DECR1):c.77G>A (p.Ser26Asn)
MISSENSE
rs147668665 Benign: not provided 90,045,002(+) GT/G
NM_001359.2(DECR1):c.885+9del
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DECR1 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 DECR1 Gene

Variant ID Type Subtype PubMed ID
esv2759628 CNV gain+loss 17122850
nsv8365 CNV gain 18304495

Variation tolerance for DECR1 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DECR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DECR1
Leiden Open Variation Database (LOVD)
DECR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DECR1 Gene

Disorders for DECR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DECR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
2,4-dienoyl-coa reductase deficiency
  • decrd
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase deficiency
hyperprolinemia, type i
  • hyrpro1
hyperprolinemia, type ii
  • hyrpro2
carnitine deficiency, systemic primary
  • cdsp
- elite association - COSMIC cancer census association via MalaCards
Search DECR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DECR_HUMAN
  • 2,4-dienoyl-CoA reductase deficiency (DECRD) [MIM:616034]: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. {ECO:0000269 PubMed:24847004}. Note=The protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS. {ECO:0000269 PubMed:24847004}.

Additional Disease Information for DECR1

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 DECR1: view

No data available for Genatlas for DECR1 Gene

Publications for DECR1 Gene

  1. Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR). (PMID: 9403065) Helander HM … Hiltunen JK (Genomics 1997) 3 4 22
  2. Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase. (PMID: 7818482) Koivuranta KT … Hiltunen JK (The Biochemical journal 1994) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3

Products for DECR1 Gene

Sources for DECR1 Gene