PECR

gene
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Also known as HSA250303TERPSDR29C1

Summary

PECR (peroxisomal trans-2-enoyl-CoA reductase, HGNC:18281) is a protein-coding gene on chromosome 2q35, encoding Peroxisomal trans-2-enoyl-CoA reductase (Q9BY49). Participates in chain elongation of fatty acids.

Enables signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Located in peroxisome.

Source: NCBI Gene 55825 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
  • GWAS associations: 1
  • Clinical variants (ClinVar): 63 total
  • MANE Select transcript: NM_018441

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18281
Approved symbolPECR
Nameperoxisomal trans-2-enoyl-CoA reductase
Location2q35
Locus typegene with protein product
StatusApproved
AliasesHSA250303, TERP, SDR29C1
Ensembl geneENSG00000115425
Ensembl biotypeprotein_coding
OMIM605843
Entrez55825

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding_CDS_not_defined, 3 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000265322, ENST00000442122, ENST00000461330, ENST00000464722, ENST00000464737, ENST00000474093, ENST00000487318, ENST00000497889, ENST00000896257, ENST00000912895

RefSeq mRNA: 1 — MANE Select: NM_018441 NM_018441

CCDS: CCDS33375

Canonical transcript exons

ENST00000265322 — 8 exons

ExonStartEnd
ENSE00001696405216038388216039360
ENSE00001904119216081618216081809
ENSE00003464222216051449216051545
ENSE00003472690216058895216058976
ENSE00003539617216043904216044015
ENSE00003634143216049263216049373
ENSE00003662718216066385216066518
ENSE00003682321216065312216065477

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 98.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1048 / max 298.3611, expressed in 1715 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
337637.64471685
337624.3947937
337640.065428

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
renal medullaUBERON:000036298.72gold quality
buccal mucosa cellCL:000233698.65gold quality
nippleUBERON:000203097.35gold quality
ventral tegmental areaUBERON:000269196.90gold quality
cardia of stomachUBERON:000116296.83gold quality
synovial jointUBERON:000221796.83gold quality
trigeminal ganglionUBERON:000167596.71gold quality
subthalamic nucleusUBERON:000190696.65gold quality
lateral globus pallidusUBERON:000247696.58gold quality
dorsal root ganglionUBERON:000004496.45gold quality
superior surface of tongueUBERON:000737196.45gold quality
pylorusUBERON:000116696.39gold quality
spermCL:000001996.37silver quality
superior vestibular nucleusUBERON:000722796.37gold quality
substantia nigra pars reticulataUBERON:000196696.29gold quality
pericardiumUBERON:000240796.14gold quality
inferior vagus X ganglionUBERON:000536396.05gold quality
jejunal mucosaUBERON:000039996.04gold quality
substantia nigra pars compactaUBERON:000196595.98gold quality
saphenous veinUBERON:000731895.63gold quality
lateral nuclear group of thalamusUBERON:000273695.50gold quality
vena cavaUBERON:000408795.48gold quality
pharyngeal mucosaUBERON:000035595.36gold quality
jejunumUBERON:000211595.35gold quality
urethraUBERON:000005795.05gold quality
right lobe of liverUBERON:000111494.96gold quality
endothelial cellCL:000011594.92gold quality
body of tongueUBERON:001187694.78gold quality
liverUBERON:000210794.77gold quality
mammalian vulvaUBERON:000099794.52gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.87

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, ESR1, POU1F1

miRNA regulators (miRDB)

73 targeting PECR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-5692A100.0074.406850
HSA-MIR-1213699.9872.815713
HSA-MIR-4715-3P99.9866.03670
HSA-MIR-806899.9873.852376
HSA-MIR-56899.9869.862084
HSA-MIR-477599.9875.006394
HSA-MIR-590-3P99.9674.346478
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-391099.9571.132227
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502

Literature-anchored findings (GeneRIF, showing 3)

  • Human trans-2-enoyl-CoA reductase (TER) is responsible for the reduction of phytenoyl-CoA to phytanoyl-CoA in peroxisomes. (PMID:16546181)
  • Biochemical studies and structural analysis suggest that pDCRs can catalyze the shortening of six-carbon-long substrates in vitro. (PMID:22745130)
  • Trans-2-enoyl-CoA reductase limits Ca(2+) accumulation in the endoplasmic reticulum by inhibiting the Ca(2+) pump SERCA2b. (PMID:33482198)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriopecrENSDARG00000055976
mus_musculusPecrENSMUSG00000026189
rattus_norvegicusPecrENSRNOG00000055295

Protein

Protein identifiers

Peroxisomal trans-2-enoyl-CoA reductaseQ9BY49 (reviewed: Q9BY49)

Alternative names: 2,4-dienoyl-CoA reductase-related protein, HPDHase, Short chain dehydrogenase/reductase family 29C member 1, pVI-ARL

All UniProt accessions (2): Q9BY49, B4DJS2

UniProt curated annotations — full annotation on UniProt →

Function. Participates in chain elongation of fatty acids. Catalyzes the reduction of trans-2-enoyl-CoAs of varying chain lengths from 6:1 to 16:1, having maximum activity with 10:1 CoA. Has no 2,4-dienoyl-CoA reductase activity.

Subunit / interactions. Interacts with PEX5, probably required to target it into peroxisomes.

Subcellular location. Peroxisome.

Induction. Not induced by IR.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9BY49-11yes
Q9BY49-22

RefSeq proteins (1): NP_060911* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002347SDR_famFamily
IPR036291NAD(P)-bd_dom_sfHomologous_superfamily
IPR052388Peroxisomal_t2-enoyl-CoA_redFamily

Pfam: PF13561

Enzyme classification (BRENDA):

  • EC 1.3.1.38 — trans-2-enoyl-CoA reductase (NADPH) (BRENDA: 11 organisms, 27 substrates, 18 inhibitors, 16 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
NADPH0.0049–0.1064
TRANS-2-DECENOYL-COA0.0071–0.0183
2-DODECENOYL-COA0.0043–0.00542
NADH0.0152–0.03522
TRANS-2-CROTONYL-COA0.0721
TRANS-2-DODECENOYL-COA0.00371
TRANS-2-HEXENOYL-COA0.0481
TRANS-2-OCTENOYL-COA0.0111
TRANS-PHYTENOYL-COA0.0181
(4E)-DEC-4-ENOYL-COA0

Catalyzed reactions (Rhea), 6 shown:

  • a (2E)-enoyl-CoA + NADPH + H(+) = a 2,3-saturated acyl-CoA + NADP(+) (RHEA:33763)
  • (2E)-octenoyl-CoA + NADPH + H(+) = octanoyl-CoA + NADP(+) (RHEA:44952)
  • (2E)-hexenoyl-CoA + NADPH + H(+) = hexanoyl-CoA + NADP(+) (RHEA:44956)
  • (2E)-decenoyl-CoA + NADPH + H(+) = decanoyl-CoA + NADP(+) (RHEA:44960)
  • (2E)-dodecenoyl-CoA + NADPH + H(+) = dodecanoyl-CoA + NADP(+) (RHEA:44964)
  • (2E)-tetradecenoyl-CoA + NADPH + H(+) = tetradecanoyl-CoA + NADP(+) (RHEA:44968)

UniProt features (40 total): helix 16, strand 7, sequence conflict 4, modified residue 3, turn 2, sequence variant 2, chain 1, short sequence motif 1, mutagenesis site 1, active site 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
1YXMX-RAY DIFFRACTION1.9

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BY49-F194.240.85

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 179 (proton acceptor)

Ligand- & substrate-binding residues (1): 23–47

Post-translational modifications (3): 32, 49, 179

Mutagenesis-validated functional residues (1):

PositionPhenotype
303abolishes localization to peroxisomes.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-389599Alpha-oxidation of phytanate
R-HSA-9033241Peroxisomal protein import

MSigDB gene sets: 158 (showing top): GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOCC_MICROBODY_MEMBRANE, GOMF_SIGNALING_RECEPTOR_BINDING, MODULE_207

GO Biological Process (4): fatty acid biosynthetic process (GO:0006633), phytol metabolic process (GO:0033306), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (3): signaling receptor binding (GO:0005102), trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166), oxidoreductase activity (GO:0016491)

GO Cellular Component (5): mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Peroxisomal lipid metabolism1
Protein localization1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm2
cellular anatomical structure2
fatty acid metabolic process1
lipid biosynthetic process1
monocarboxylic acid biosynthetic process1
diterpenoid metabolic process1
primary alcohol metabolic process1
fatty alcohol metabolic process1
primary metabolic process1
lipid metabolic process1
monocarboxylic acid metabolic process1
protein binding1
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor1
catalytic activity1
intracellular membrane-bounded organelle1
microbody1
peroxisome1
microbody membrane1
intracellular anatomical structure1

Protein interactions and networks

STRING

3589 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PECRACAA1P09110594
PECREHHADHQ08426574
PECRACOX2Q99424560
PECRPKNOX2Q96KN3536
PECRTMEM69Q5SWH9521
PECRCCDC137Q6PK04507
PECRCLEC19AQ6UXS0502
PECRACOX3O15254493
PECRZC3H10Q96K80471
PECRCBLN3Q6UW01460
PECRXIRP2A4UGR9451
PECRPEX7O00628447
PECRECI2O75521415
PECRPLTPP55058413
PECRLAMB4A4D0S4412

IntAct

38 interactions, top by confidence:

ABTypeScore
GRAP2STAMBPpsi-mi:“MI:0914”(association)0.810
TRIB1DET1psi-mi:“MI:0914”(association)0.640
PECRLCN1psi-mi:“MI:0914”(association)0.530
TRIB1UBE2E1psi-mi:“MI:0914”(association)0.530
HENMT1SNX2psi-mi:“MI:0914”(association)0.530
POMGNT2PECRpsi-mi:“MI:0914”(association)0.530
HENMT1RAD51Cpsi-mi:“MI:0914”(association)0.350
POMGNT2EIF4E2psi-mi:“MI:0914”(association)0.350
UBE2E3RCBTB2psi-mi:“MI:0914”(association)0.350
NRBM47psi-mi:“MI:0914”(association)0.350
PEX5AGPSpsi-mi:“MI:0914”(association)0.350
POLRMTpsi-mi:“MI:0914”(association)0.350
SUPT5Hpsi-mi:“MI:0914”(association)0.350
GTPBP10psi-mi:“MI:0914”(association)0.350
GTPBP1psi-mi:“MI:0914”(association)0.350
RNF181CHEK1psi-mi:“MI:0914”(association)0.350
RAP2ACHEK1psi-mi:“MI:0914”(association)0.350

BioGRID (40): ACTA2 (Affinity Capture-MS), ACY1 (Affinity Capture-MS), LCN1 (Affinity Capture-MS), UBA5 (Affinity Capture-MS), PECR (Affinity Capture-MS), HNRNPF (Affinity Capture-MS), PECR (Affinity Capture-MS), PECR (Affinity Capture-MS), PECR (Affinity Capture-MS), LCN1 (Affinity Capture-MS), UBA5 (Affinity Capture-MS), ACY1 (Affinity Capture-MS), PECR (Affinity Capture-MS), PEX5 (Affinity Capture-Western), PECR (Proximity Label-MS)

ESM2 similar proteins: A0A023I4F1, A0A084B9Z1, A0A084R1K2, A0A097ZPE8, A0A0S2CGD3, A0A142I726, A0A144Y7G4, A0A162J3X8, A0A1B2CTA9, A0A1J0HSK7, A0A1L9WLE6, A0A443HJZ3, A0A455LLX2, A0A4P8DJW5, A0A8J9S3B0, A3F5F0, B6H062, B8M9K8, D7PI11, G0RH19, G0RNA2, G4N292, G9N4A1, G9N4A2, G9N4A6, L0E2Z4, L0E4F8, L7WRR9, M2Y1A3, M2YJK1, P32573, P9WEF8, Q00674, Q5AR48, Q5RCH8, Q6NV34, Q7SHI1, Q7Z9I3, Q7Z9I4, Q93761

Diamond homologs: A0A023I4F1, A0A078IS66, A0A078ISJ6, A0A0C6DRT7, A0A0U5CNP2, A0A1B7YCL6, A0A1V0QS34, A0A2H3CNT9, A0A2H3CZZ2, A0A2H3D905, A0A4P8W851, A0A823A767, A2RVM0, A6QP05, B2X050, B6H062, B8A5W4, C8V3Y7, C8VI80, D4AK45, D7UQ42, D7UTD0, F4JJR8, O34717, O48741, O66148, O74959, O80333, P0AFP4, P0AFP5, P21218, P35320, P39577, P46331, P59837, Q01289, Q03326, Q0UK52, Q17QU7, Q17QW3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

63 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance54
Likely benign0
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2106 predictions. Top by Δscore:

VariantEffectΔscore
2:215996440:C:CTacceptor_gain1.0000
2:215996461:TATCA:Tacceptor_gain1.0000
2:215996462:ATCA:Aacceptor_gain1.0000
2:215996463:TCA:Tacceptor_gain1.0000
2:215996463:TCAC:Tacceptor_loss1.0000
2:215996464:CA:Cacceptor_gain1.0000
2:215996464:CAC:Cacceptor_gain1.0000
2:215996466:C:CCacceptor_gain1.0000
2:215996466:C:CGacceptor_loss1.0000
2:215996467:T:Cacceptor_loss1.0000
2:215996469:T:Cacceptor_gain1.0000
2:215996469:T:TCacceptor_gain1.0000
2:215996471:G:Cacceptor_gain1.0000
2:215996473:A:ACacceptor_gain1.0000
2:215996473:A:Cacceptor_gain1.0000
2:216043900:TCAC:Tdonor_loss1.0000
2:216043901:CA:Cdonor_loss1.0000
2:216043902:A:AGdonor_loss1.0000
2:216044016:C:CCacceptor_gain1.0000
2:216044016:C:Tacceptor_loss1.0000
2:216049258:CTTAC:Cdonor_loss1.0000
2:216049259:TTA:Tdonor_loss1.0000
2:216049260:TACCT:Tdonor_loss1.0000
2:216049261:ACCT:Adonor_gain1.0000
2:216049262:CCTC:Cdonor_gain1.0000
2:216049264:T:TAdonor_gain1.0000
2:216049373:CCTG:Cacceptor_gain1.0000
2:216049376:G:Cacceptor_gain1.0000
2:216049376:G:GCacceptor_gain1.0000
2:216049379:T:TCacceptor_gain1.0000

AlphaMissense

1959 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:216065400:A:CF112L0.997
2:216065400:A:TF112L0.997
2:216065402:A:GF112L0.997
2:216051456:A:TV199D0.995
2:216058933:A:CN156K0.994
2:216058933:A:TN156K0.994
2:216058937:A:TV155D0.994
2:216065418:G:CN106K0.994
2:216065418:G:TN106K0.994
2:216066398:C:GR82P0.994
2:216051461:A:CN197K0.993
2:216051461:A:TN197K0.993
2:216065366:A:GW124R0.993
2:216065366:A:TW124R0.993
2:216049282:C:GR232P0.992
2:216051510:A:GL181P0.992
2:216081674:A:TV23D0.992
2:216051487:A:GW189R0.991
2:216051487:A:TW189R0.991
2:216065341:A:GL132P0.991
2:216081629:A:GL38P0.991
2:216081666:C:AG26W0.991
2:216051468:C:GR195P0.990
2:216044002:A:TV243D0.988
2:216066495:G:TR50S0.987
2:216081650:C:TG31E0.987
2:216049276:C:TG234D0.986
2:216051458:A:CC198W0.986
2:216081668:C:TG25D0.986
2:216065321:A:GC139R0.985

dbSNP variants (sampled 300 via entrez): RS1000016210 (2:216037689 C>A,T), RS1000047597 (2:216036222 C>T), RS1000060809 (2:216060430 G>A), RS1000201554 (2:216053809 C>G,T), RS1000365963 (2:216047934 T>C,G), RS1000378204 (2:216053982 A>T), RS1000397457 (2:216036512 GGAGA>G,GGA), RS1000433361 (2:216060243 C>A,T), RS1000610392 (2:216036136 C>T), RS1000645213 (2:216077180 G>A), RS1000660778 (2:216047371 C>G), RS1000671144 (2:216029448 G>A), RS1000764124 (2:216029713 G>A), RS1000800654 (2:216047648 T>C,G), RS1000810811 (2:216064796 C>A,T)

Disease associations

OMIM: gene MIM:605843 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
neurodevelopmental disorderLimitedAutosomal recessive

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST000432_2Alcohol dependence1.000000e-08

MeSH disease descriptors (1)

DescriptorNameTree numbers
D065886Neurodevelopmental DisordersF03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects expression, decreases expression, decreases methylation3
sodium arsenitedecreases expression, increases expression, increases methylation3
Benzo(a)pyrenedecreases expression3
Cyclosporinedecreases expression, increases expression3
Aflatoxin B1affects expression, decreases expression, decreases methylation3
Nickeldecreases expression2
Tobacco Smoke Pollutiondecreases expression2
Valproic Acidincreases expression2
dicrotophosdecreases expression1
methyleugenoldecreases expression1
ochratoxin Adecreases expression1
benzo(e)pyrenedecreases methylation1
periodate-oxidized adenosineaffects expression1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, decreases expression1
hexanoyl-coenzyme Aaffects binding, affects cotreatment1
decanoyl-coenzyme Aaffects binding, affects cotreatment1
lauroyl-coenzyme Aaffects binding, affects cotreatment1
bicalutamideincreases expression1
CGP 52608affects binding, increases reaction1
K 7174decreases expression1
GW 4064decreases expression, affects cotreatment1
GW 7647affects cotreatment, decreases expression1
bisphenol Bincreases expression1
abrinedecreases expression1
bisphenol Sincreases expression1
NSC 689534affects binding, increases expression1
(+)-JQ1 compounddecreases expression1
bisphenol AFincreases expression1
Vorinostatincreases expression1
Acetaminophendecreases expression1

Clinical trials (associated diseases)

202 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT04586348PHASE4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115PHASE4UNKNOWNDouble-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102PHASE3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079PHASE3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480PHASE3RECRUITINGReducing Missed Appointments
NCT07377032PHASE3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959PHASE2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348PHASE2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372PHASE2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191PHASE1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848PHASE1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398PHASE1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT01783041PHASE2/PHASE3COMPLETEDEffect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385PHASE2/PHASE3RECRUITINGFetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
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  • Associated diseases: neurodevelopmental disorder
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcohol dependence