PEX5

Summary

PEX5 (peroxisomal biogenesis factor 5, HGNC:9719) is a protein-coding gene on chromosome 12p13.31, encoding Peroxisomal targeting signal 1 receptor (P50542). Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type).

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 5830 — RefSeq curated summary.

At a glance

• Gene–disease (curated): peroxisome biogenesis disorder (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 1,096 total — 44 pathogenic, 25 likely-pathogenic
• Phenotypes (HPO): 153
• MANE Select transcript: NM_001351132

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9719
Approved symbol	PEX5
Name	peroxisomal biogenesis factor 5
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	PTS1R
Ensembl gene	ENSG00000139197
Ensembl biotype	protein_coding
OMIM	600414
Entrez	5830

Gene structure

Transcript identifiers

Ensembl transcripts: 74 — 70 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000266563, ENST00000266564, ENST00000396637, ENST00000412720, ENST00000420616, ENST00000434354, ENST00000455147, ENST00000535486, ENST00000536841, ENST00000536883, ENST00000537873, ENST00000539304, ENST00000540398, ENST00000541850, ENST00000542539, ENST00000543974, ENST00000544456, ENST00000545220, ENST00000545574, ENST00000545845, ENST00000675855, ENST00000872553, ENST00000872554, ENST00000872555, ENST00000872556, ENST00000872557, ENST00000872558, ENST00000872559, ENST00000872560, ENST00000872561, ENST00000872562, ENST00000872563, ENST00000872564, ENST00000872565, ENST00000872566, ENST00000872567, ENST00000872568, ENST00000872569, ENST00000872570, ENST00000872571, ENST00000872572, ENST00000872573, ENST00000872574, ENST00000872575, ENST00000872576, ENST00000872577, ENST00000872578, ENST00000934619, ENST00000934620, ENST00000934621, ENST00000934622, ENST00000934623, ENST00000934624, ENST00000934625, ENST00000934626, ENST00000934627, ENST00000934628, ENST00000934629, ENST00000934630, ENST00000934631, ENST00000934632, ENST00000934633, ENST00000934634, ENST00000934635, ENST00000934636, ENST00000934637, ENST00000934638, ENST00000934639, ENST00000958667, ENST00000958668, ENST00000958669, ENST00000958670, ENST00000958671, ENST00000958672

RefSeq mRNA: 26 — MANE Select: NM_001351132 NM_000319, NM_001131023, NM_001131024, NM_001131025, NM_001131026, NM_001300789, NM_001351124, NM_001351126, NM_001351127, NM_001351128, NM_001351130, NM_001351131, NM_001351132, NM_001351133, NM_001351134, NM_001351135, NM_001351136, NM_001351137, NM_001351138, NM_001351139, NM_001351140, NM_001374645, NM_001374646, NM_001374647, NM_001374648, NM_001374649

CCDS: CCDS44822, CCDS44823, CCDS44824, CCDS8576

Canonical transcript exons

ENST00000671993 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 94.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2427 / max 102.1919, expressed in 1792 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123904	10.2178	1783
123905	0.8818	468
123903	0.5656	283
123906	0.2913	122
123902	0.2862	86

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	94.70	gold quality
left testis	UBERON:0004533	94.57	gold quality
right testis	UBERON:0004534	94.54	gold quality
muscle of leg	UBERON:0001383	94.17	gold quality
skeletal muscle organ	UBERON:0014892	94.15	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.94	gold quality
skeletal muscle tissue	UBERON:0001134	93.67	gold quality
substantia nigra	UBERON:0002038	93.67	gold quality
prefrontal cortex	UBERON:0000451	93.64	gold quality
putamen	UBERON:0001874	93.53	gold quality
frontal cortex	UBERON:0001870	93.42	gold quality
testis	UBERON:0000473	93.41	gold quality
Ammon’s horn	UBERON:0001954	93.25	gold quality
right frontal lobe	UBERON:0002810	93.25	gold quality
cortical plate	UBERON:0005343	93.24	gold quality
hypothalamus	UBERON:0001898	93.06	gold quality
amygdala	UBERON:0001876	93.05	gold quality
temporal lobe	UBERON:0001871	93.04	gold quality
cerebral cortex	UBERON:0000956	92.93	gold quality
pituitary gland	UBERON:0000007	92.85	gold quality
telencephalon	UBERON:0001893	92.74	gold quality
brain	UBERON:0000955	92.69	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.44	gold quality
anterior cingulate cortex	UBERON:0009835	92.42	gold quality
caudate nucleus	UBERON:0001873	92.39	gold quality
cerebellum	UBERON:0002037	92.36	gold quality
cerebellar hemisphere	UBERON:0002245	92.36	gold quality
cerebellar cortex	UBERON:0002129	92.33	gold quality
superior frontal gyrus	UBERON:0002661	92.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting PEX5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-466	99.67	70.85	2863

Literature-anchored findings (GeneRIF, showing 40)

• Data suggest that translocation of PTS1-containing proteins across the peroxisomal membrane occurs concomitantly with formation of the Pex5p-Pex14p membrane complex and that this is probably the site from which Pex5p leaves the peroxisomal compartment. (PMID:12411433)
• binds the PTS1 independently of Hsp70 and the peroxin PEX12 (PMID:12456682)
• Binding energy threshold data have been generated for PTS1 pentapeptides containing different C-terminal tripeptide sequences to determine the functionality of specific PTS1 sequences. (PMID:12578380)
• concluded that the PTS1 domain of SR-BI is functional and can mediate peroxisomal interaction via Pex5p, in vitro (PMID:14652019)
• the N terminus of Pex5p is required for redirecting the peroxisome-associated peroxin back to the cytosol (PMID:15328363)
• Pex5p is a monomeric protein with an abnormal shape (PMID:15866874)
• Pex5 most likely enters peroxisomes, changes its interacting partners, and then exits using ATP energy. (PMID:16314507)
• Results indicate that the N-terminal half of Pex5p is best described as a natively unfolded pre-molten globule-like domain. (PMID:16403517)
• study shows mutation-dependent, gain-of-function association between myocilin & PTS1R; there was correlation between glaucoma phenotype & specific MYOC mutations, with more severe early-onset POAG mutations having higher degree of association with PTS1R (PMID:17317787)
• Results describe the affinities of mutated forms of Pex5p for a series of peroxisomal targeting signal type-1 (PTS1) peptides and conclude that PTS1-affinity reductions are correlated with Zellweger disease severity and cell biological phenotype. (PMID:17399738)
• A previously unobserved conformation for PEX5 suggests roles for intrinsic flexibility and rigid domain motions in ligand binding. (PMID:17428317)
• E2D1/2/3 (UbcH5a/b/c) are the mammalian functional counterparts of yeast/plant Pex4p (PMID:18359941)
• The location of the different mutations within the PEX5 amino acid sequence correlates rather well with the peroxisomal protein import defect observed in the cell lines. (PMID:18712838)
• N-terminal domain of Pex14, Pex14(N), adopts a three-helical fold. Pex5 and Pex19 ligand helices bind competitively to the same surface in Pex14(N) albeit with opposite directionality. (PMID:19197237)
• Results describe the properties of the soluble and membrane-bound monoubiquitinated Pex5p species (Ub-Pex5p). (PMID:19208625)
• analysis of the human Pex5.Pex14.PTS1 protein complex structure obtained by small angle X-ray scattering (PMID:19584060)
• the step of protein translocation across the peroxisomal membrane into the PEX5 cycling pathway (PMID:19632994)
• the affinities of the PTS1-containing peptides from 42 proteins from the human proteome for Pex5p (PMID:20178365)
• The Peroxisomal targeting signal 1 in Scp2 is autonomous and is essential for binding to pex5. (PMID:21375735)
• interaction of PEX5 with catalase and PEX14 (PMID:21976670)
• Our results suggest that ubiquitin-specific protease 9X (USP9X) is by far the most active deubiquitinase acting on Ub-PEX5, both in female rat liver and HeLa cells. (PMID:22371489)
• The molecular mechanism of recognition by the peroxisomal receptor Pex5p, in complex with alanine-glyoxylate aminotransferase revealed by X-ray crystallography. (PMID:22529745)
• Translocation of proteins across the organelle membrane occurs downstream of a reversible docking step and upstream of the first cytosolic ATP-dependent step, i.e. before ubiquitination of PEX5. (PMID:23963456)
• Cys11 in PEX5 serves as a functional redox switch regulating the peroxisomal/cytosolic localization of peroxisomal proteins. (PMID:24118911)
• The novel Pex14-binding site may represent the initial tethering site of Pex5 from which the cargo-loaded receptor is further processed in a sequential manner. (PMID:24235149)
• PEX5 has a role in regulating peroxisome numbers by signaling to mediate pexophagy (PMID:24453954)
• ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulating PTS1 protein import (PMID:24662292)
• bulky side chain within the recognition motif, which blocks contraction of the PEX5 binding cavity (PMID:25369882)
• the molecular recognition of PTS1 cargo proteins by Pex5p (PMID:25689234)
• our data suggest that insertion of the trimeric PEX5-PEX7-PTS2 protein complex into the DTM is probably accompanied by conformational alterations in PEX5 to allow release of the PTS2 protein into the organelle matrix (PMID:26138649)
• PEX5 encodes two isoforms, PEX5L & PEX5S, & a homozygous frame shift mutation c.722dupA (p.Val242Glyfs( *)33), located in the PEX5L-specific exon 9, results in loss of PEX5L only. Loss of PEX5L results in deficient import of PTS2-tagged proteins (PMID:26220973)
• Data show that ataxia-telangiectasia mutated (ATM) phosphorylates peroxisomal biogenesis factor 5 (PEX5) at serine 141 in response to reactive oxygen species. (PMID:26344566)
• Our data suggest that the functional polymorphism rs3814058C>T in 3’-UTR of PXR may be a functional biomarker to predict risk of colorectal cancer (PMID:26547791)
• data reveal subpopulations of peroxisomes showing only weak colocalization between PEX14 and PEX5 or PEX11 but at the same time a clear compartmentalized organization. This compartmentalization, which was less evident in cases of strong colocalization, indicates dynamic protein reorganization linked to changes occurring in the peroxisomes. (PMID:27311714)
• TRIM37-mediated ubiquitylation stabilizes PEX5 and promotes peroxisomal matrix protein import, suggesting that mulibrey nanism is a new peroxisomal biogenesis disorder. (PMID:28724525)
• these findings lend credit to the idea that inefficient catalase import, when coupled with the role of PEX5 as a redox-regulated import receptor, constitutes a cellular defense mechanism to combat oxidative insults of extra-peroxisomal origin. (PMID:28760655)
• Data suggest that soluble/cytosolic PEX5 interacts with PEX14/PEX13 complex, a model for the docking/translocation module (DTM) of the peroxisomal matrix protein translocon; PEX14/PEX13 complex appears to function in peroxisomal membrane as large cavity into which cytosolic PEX5 can enter to release its cargo. (PEX = peroxisomal biogenesis factor) (PMID:28765278)
• These data suggest that PEX5 may be a critical regulator of lysosomal gene expression and autophagy through the mTOR-TFEB-autophagy axis under nutrient deprivation. (PMID:29622767)
• This study provides evidence suggesting that monoubiquitinated PEX5 interacts directly with both PEX1 and PEX6 through its ubiquitin moiety and that the PEX5 polypeptide chain is globally unfolded during the ATP-dependent extraction event. (PMID:29884772)
• Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7) (PMID:30204880)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pex5	ENSDARG00000070654
mus_musculus	Pex5	ENSMUSG00000005069
rattus_norvegicus	Pex5	ENSRNOG00000049203
drosophila_melanogaster	Pex5	FBGN0023516
caenorhabditis_elegans		WBGENE00004194

Paralogs (1): PEX5L (ENSG00000114757)

Protein

Protein identifiers

Peroxisomal targeting signal 1 receptor — P50542 (reviewed: P50542)

Alternative names: PTS1-BP, Peroxin-5, Peroxisomal C-terminal targeting signal import receptor, Peroxisome receptor 1

All UniProt accessions (16): P50542, A0A0S2Z480, A0A0S2Z4F3, A0A0S2Z4H1, B4E0T2, F5GXX3, F5GYB4, F5GZ41, F5H0L9, F5H205, F5H3X7, F5H432, F5H5C0, F5H637, H0YGT8, J3KPV0

UniProt curated annotations — full annotation on UniProt →

Function. Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type). Binds to cargo proteins containing a PTS1 peroxisomal targeting signal in the cytosol, and translocates them into the peroxisome matrix by passing through the PEX13-PEX14 docking complex along with cargo proteins. PEX5 receptor is then retrotranslocated into the cytosol, leading to release of bound cargo in the peroxisome matrix, and reset for a subsequent peroxisome import cycle. In addition to promoting peroxisomal translocation of proteins containing a PTS1 peroxisomal targeting signal, mediates peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal via its interaction with PEX7. Interaction with PEX7 only takes place when PEX7 is associated with cargo proteins containing a PTS2 peroxisomal targeting signal. PEX7 along with PTS2-containing cargo proteins are then translocated through the PEX13-PEX14 docking complex together with PEX5. Does not mediate translocation of peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal.

Subunit / interactions. Interacts (via WxxxF/Y and LVxEF motifs) with PEX14; promoting translocation through the PEX13-PEX14 docking complex. Interacts with PEX12. Interacts (Cys-linked ubiquitinated) with ZFAND6. Interacts (when ubiquitinated at Lys-209) with p62/SQSTM1. Interacts with DDO; the interaction is direct and required for localization of DDO to the peroxisome. Interacts with PEX7, promoting peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal.

Subcellular location. Cytoplasm. Cytosol. Peroxisome matrix.

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

Post-translational modifications. Monoubiquitinated at Cys-11 by PEX2 during PEX5 passage through the retrotranslocation channel. Cys-11 monoubiquitination acts as a recognition signal for the PEX1-PEX6 complex and is required for PEX5 extraction and export from peroxisomes. Monoubiquitination at Cys-11 is removed by USP9X in the cytosol, resetting PEX5 for a subsequent import cycle. When PEX5 recycling is compromised, polyubiquitinated by PEX10 during its passage through the retrotranslocation channel, leading to its degradation. Monoubiquitination at Lys-472 by TRIM37 promotes its stability by preventing its polyubiquitination and degradation by the proteasome. Ubiquitination at Lys-527 is not mediated by the PEX2-PEX10-PEX12 ligase complex and is not related to PEX5 recycling. Monoubiquitinated at Lys-209 by PEX2 following phosphorylation by ATM in response to starvation or reactive oxygen species (ROS), leading to PEX5 recognition by p62/SQSTM1 and induction of pexophagy. Phosphorylated at Ser-141 by ATM in response to reactive oxygen species (ROS), promoting monoubiquitination at Lys-209 and induction of pexophagy.

Disease relevance. Peroxisome biogenesis disorder 2A (PBD2A) [MIM:214110] A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. The disease is caused by variants affecting the gene represented in this entry. Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. The disease is caused by variants affecting the gene represented in this entry. Rhizomelic chondrodysplasia punctata 5 (RCDP5) [MIM:616716] A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Cys-11 acts as a sensor of redox state. In response to oxidative stress, monoubiquitination at Cys-11 is prevented.

Domain organisation. The TPR repeats mediate interaction with proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type). The WxxxF/Y motifs mediate interaction with PEX14, promoting association with the PEX13-PEX14 docking complex. The amphipathic helix 1 and 2 (AH1 and AH2, respectively) are required for PEX5 retrotranslocation and recycling. AH2 mediates interaction with lumenal side of the PEX2-PEX10-PEX12 ligase complex, while AH1 is required for extraction from peroxisomal membrane by the PEX1-PEX6 AAA ATPase complex.

Similarity. Belongs to the peroxisomal targeting signal receptor family.

Isoforms (4)

UniProt ID	Names	Canonical?
P50542-1	1, PEX5L	yes
P50542-2	2, PEX5S
P50542-3	3
P50542-4	4

RefSeq proteins (26): NP_000310, NP_001124495, NP_001124496, NP_001124497, NP_001124498, NP_001287718, NP_001338053, NP_001338055, NP_001338056, NP_001338057, NP_001338059, NP_001338060, NP_001338061, NP_001338062, NP_001338063, NP_001338064, NP_001338065, NP_001338066, NP_001338067, NP_001338068, NP_001338069, NP_001361574, NP_001361575, NP_001361576, NP_001361577, NP_001361578 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR024111	PEX5/PEX5L	Family

Pfam: PF13181, PF13432

UniProt features (79 total): helix 21, mutagenesis site 14, short sequence motif 8, repeat 7, modified residue 6, region of interest 5, cross-link 4, sequence variant 4, splice variant 3, turn 3, chain 1, site 1, sequence conflict 1, strand 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
1FCH	X-RAY DIFFRACTION	2.2
4KYO	X-RAY DIFFRACTION	2.2
2C0L	X-RAY DIFFRACTION	2.3
7Z0K	X-RAY DIFFRACTION	2.3
3R9A	X-RAY DIFFRACTION	2.35
2C0M	X-RAY DIFFRACTION	2.5
2J9Q	X-RAY DIFFRACTION	2.65
4KXK	X-RAY DIFFRACTION	2.9
2W84	SOLUTION NMR
4BXU	SOLUTION NMR
9GAG	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P50542-F1	70.28	0.41

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): 11 (sensor of redox state)

Post-translational modifications (10): 115, 141, 153, 155, 167, 279, 11, 209, 472, 527

Mutagenesis-validated functional residues (14):

Position	Phenotype
11	promotes accumulation at the peroxisomal membrane because of impaired export into the cytosol. does not affect monoubiqu
11	does not affect ability to mediate peroxisomal import of proteins.
11	promotes accumulation at the peroxisomal membrane because of impaired export into the cytosol.
62–66	abolished interaction with pex14.
118	strongly reduced interaction with pex14.
122	strongly reduced interaction with pex14.
140	decreased interaction with pex14.
141	abolished phosphorylation by atm, leading to impaired monoubiquitination at k-209.
141	mimics phosphorylation, leading to increased pexophagy in response to reactive oxygen species (ros).
209	does not affect monoubiquitination by trim37.
209	abolished interaction with sqstm1, leading to decreased pexophagy in response to reactive oxygen species (ros).
472	abolished monoubiquitination by trim37, leading to decreased stability.
527	does not affect monoubiquitination by trim37.
527	does not affect pex5 recycling.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9664873	Pexophagy
R-HSA-8866654	E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241	Peroxisomal protein import

MSigDB gene sets: 579 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_LIPID_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, GOBP_PROTEIN_TARGETING, GOBP_NEUROGENESIS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (27): very long-chain fatty acid metabolic process (GO:0000038), pexophagy (GO:0000425), neuron migration (GO:0001764), protein targeting to peroxisome (GO:0006625), fatty acid beta-oxidation (GO:0006635), mitochondrial membrane organization (GO:0007006), endoplasmic reticulum organization (GO:0007029), protein import into peroxisome matrix (GO:0016558), protein import into peroxisome matrix, docking (GO:0016560), protein import into peroxisome matrix, translocation (GO:0016561), protein import into peroxisome matrix, receptor recycling (GO:0016562), cerebral cortex cell migration (GO:0021795), cerebral cortex neuron differentiation (GO:0021895), negative regulation of protein-containing complex assembly (GO:0031333), cellular response to reactive oxygen species (GO:0034614), positive regulation of multicellular organism growth (GO:0040018), protein import into peroxisome matrix, substrate release (GO:0044721), protein import into peroxisome membrane (GO:0045046), cell development (GO:0048468), neuromuscular process (GO:0050905), protein tetramerization (GO:0051262), protein monoubiquitination (GO:0006513), lipid metabolic process (GO:0006629), mitochondrion organization (GO:0007005), peroxisome organization (GO:0007031), protein transport (GO:0015031), protein unfolding (GO:0043335)

GO Molecular Function (7): peroxisome signal sequence receptor activity (GO:0000268), peroxisome matrix targeting signal-1 binding (GO:0005052), enzyme binding (GO:0019899), small GTPase binding (GO:0031267), peroxisome membrane targeting sequence binding (GO:0033328), protein carrier activity (GO:0140597), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), peroxisomal matrix (GO:0005782), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Selective autophagy	1
Protein ubiquitination	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein import into peroxisome matrix	4
establishment of protein localization to peroxisome	3
cellular anatomical structure	3
cytoplasm	3
peroxisomal membrane transport	2
protein localization to peroxisome	2
peroxisome signal sequence receptor activity	2
intracellular membrane-bounded organelle	2
peroxisome	2
fatty acid metabolic process	1
macroautophagy	1
autophagy of peroxisome	1
cell migration	1
generation of neurons	1
protein targeting	1
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
mitochondrion	1
mitochondrion organization	1
membrane organization	1
organelle organization	1
endomembrane system organization	1
protein transmembrane import into intracellular organelle	1
intracellular protein localization	1
intracellular protein transmembrane transport	1
receptor recycling	1
cerebral cortex development	1
telencephalon cell migration	1
forebrain neuron differentiation	1
regulation of protein-containing complex assembly	1
negative regulation of cellular component organization	1
protein-containing complex assembly	1
response to reactive oxygen species	1
cellular response to oxidative stress	1
cellular response to oxygen-containing compound	1
multicellular organism growth	1
regulation of multicellular organism growth	1
positive regulation of developmental growth	1
positive regulation of multicellular organismal process	1

Protein interactions and networks

STRING

1288 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PEX5	PEX13	Q92968	999
PEX5	PEX14	O75381	999
PEX5	PEX7	O00628	995
PEX5	PEX6	Q13608	980
PEX5	PEX10	O60683	975
PEX5	PEX2	P28328	969
PEX5	PEX12	O00623	968
PEX5	PEX16	Q9Y5Y5	960
PEX5	PEX19	P40855	957
PEX5	PEX3	P56589	950
PEX5	PEX26	Q7Z412	943
PEX5	PEX11B	O96011	926
PEX5	NBR1	Q14596	919
PEX5	PEX1	O43933	915
PEX5	ABCD3	P28288	899

IntAct

151 interactions, top by confidence:

A	B	Type	Score
PEX14	PEX19	psi-mi:“MI:0914”(association)	0.950
SYTL5	RAB27B	psi-mi:“MI:0914”(association)	0.850
PEX14	PEX5	psi-mi:“MI:0915”(physical association)	0.810
PEX5	PEX14	psi-mi:“MI:0915”(physical association)	0.810
PEX5	PEX14	psi-mi:“MI:0407”(direct interaction)	0.810
PEX14	PEX5	psi-mi:“MI:0407”(direct interaction)	0.810
PEX14	PEX5	psi-mi:“MI:0403”(colocalization)	0.810
PEX12	PEX5	psi-mi:“MI:0915”(physical association)	0.680
PEX5	PEX12	psi-mi:“MI:0915”(physical association)	0.680
PEX5		psi-mi:“MI:0915”(physical association)	0.560
PEX5	EP400NL	psi-mi:“MI:0915”(physical association)	0.560
PEX5	ACOT8	psi-mi:“MI:0915”(physical association)	0.560
S100A6	PEX5	psi-mi:“MI:0915”(physical association)	0.560
PEX5	LDHB	psi-mi:“MI:0915”(physical association)	0.560
CCDC14	PEX5	psi-mi:“MI:0915”(physical association)	0.560
PEX5	ZNF772	psi-mi:“MI:0915”(physical association)	0.560
PEX5	CAPRIN2	psi-mi:“MI:0915”(physical association)	0.560
RPL14	PEX5	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	PEX5	psi-mi:“MI:0915”(physical association)	0.560
PEX5	TOM7	psi-mi:“MI:0915”(physical association)	0.560
TM6SF1	PEX5	psi-mi:“MI:0915”(physical association)	0.560
PEX5	GDPD5	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (302): PEX5 (Two-hybrid), S100A6 (Two-hybrid), MKRN3 (Two-hybrid), RPL14 (Two-hybrid), ACOT8 (Two-hybrid), TM6SF1 (Two-hybrid), PRR13 (Two-hybrid), TOMM7 (Two-hybrid), CCDC14 (Two-hybrid), CAPRIN2 (Two-hybrid), GDPD5 (Two-hybrid), EP400NL (Two-hybrid), ZNF772 (Two-hybrid), PEX5 (Affinity Capture-RNA), PEX5 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1L8FDW4, A4QP73, A4UMC5, B4NYQ2, B5X0I6, C4R2L0, D4A6D7, O09012, O70525, O74711, P33292, P50542, Q01495, Q1RMV0, Q29RR5, Q2M2R8, Q2TXF0, Q54MD1, Q5AV00, Q5F259, Q5R4F4, Q5U2Y6, Q5ZMQ9, Q6BM14, Q6CT48, Q6DI35, Q6DKK2, Q6FM42, Q6K687, Q6PD24, Q6ZTN6, Q752X0, Q80UP5, Q86YJ7, Q8C437, Q8CC21, Q8IYB4, Q8IZ07, Q8L611, Q920N5

Diamond homologs: A0A1L8FDW4, C4R2L0, O09012, O70525, O74711, O94325, P33292, P35056, P50542, Q01495, Q1RMV0, Q2M2R8, Q5ZMQ9, Q6BM14, Q6CT48, Q6FM42, Q752X0, Q8C437, Q8IYB4, Q920N5, Q925N3, Q99144, Q9FMA3, Q04364, Q54MD1, Q54DA8, P17883, Q6ZXV5, O94474

SIGNOR signaling

9 interactions.

A	Effect	B	Mechanism
ATM	“up-regulates activity”	PEX5	phosphorylation
PEX5	“up-regulates activity”	SQSTM1	binding
PEX12	“up-regulates activity”	PEX5	ubiquitination
PEX2	“down-regulates quantity by destabilization”	PEX5	ubiquitination
UBE2D1	“up-regulates activity”	PEX5	ubiquitination
UBE2D2	“down-regulates quantity by destabilization”	PEX5	ubiquitination
PEX14	“up-regulates activity”	PEX5	binding
PEX1	“up-regulates activity”	PEX5	binding
PEX6	“up-regulates activity”	PEX5	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 144 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Peroxisomal protein import	9	17.3×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
peroxisome organization	5	32.6×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1096 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	44
Likely pathogenic	25
Uncertain significance	424
Likely benign	458
Benign	64

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070685	NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs)	Pathogenic
1072376	NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs)	Pathogenic
1074777	NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs)	Pathogenic
1362943	NM_001351132.2(PEX5):c.808dup (p.Leu270fs)	Pathogenic
1418378	NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter)	Pathogenic
1453131	NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)	Pathogenic
1454762	NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)	Pathogenic
1456774	NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter)	Pathogenic
1458895	NM_001351132.2(PEX5):c.472del (p.Arg158fs)	Pathogenic
1459320	NM_001351132.2(PEX5):c.1264dup (p.Ala422fs)	Pathogenic
1459850	NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter)	Pathogenic
190410	NM_001351132.2(PEX5):c.677dup (p.Val227fs)	Pathogenic
1999550	NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)	Pathogenic
2007445	NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)	Pathogenic
2034747	NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)	Pathogenic
2055270	NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)	Pathogenic
2082711	NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)	Pathogenic
2088202	NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)	Pathogenic
2147984	NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)	Pathogenic
2710496	NM_001351132.2(PEX5):c.88del (p.Leu30fs)	Pathogenic
2711278	NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)	Pathogenic
2736808	NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)	Pathogenic
2746765	NM_001351132.2(PEX5):c.1607del (p.Asn536fs)	Pathogenic
2749134	NM_001351132.2(PEX5):c.1426del (p.Leu476fs)	Pathogenic
2757117	NM_001351132.2(PEX5):c.30del (p.Glu10fs)	Pathogenic
2769358	NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)	Pathogenic
2769438	NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)	Pathogenic
2778472	NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)	Pathogenic
2803396	NM_001351132.2(PEX5):c.478del (p.Ala160fs)	Pathogenic
280450	NM_001351132.2(PEX5):c.1803_1805delinsTC (p.Glu601fs)	Pathogenic

SpliceAI

2423 predictions. Top by Δscore:

Variant	Effect	Δscore
12:7190474:G:GT	donor_gain	1.0000
12:7190477:GGAT:G	donor_gain	1.0000
12:7191220:T:TA	acceptor_gain	1.0000
12:7191221:GGCA:G	acceptor_loss	1.0000
12:7191222:GCA:G	acceptor_loss	1.0000
12:7191223:CAGT:C	acceptor_loss	1.0000
12:7191224:A:AG	acceptor_gain	1.0000
12:7191224:A:AT	acceptor_loss	1.0000
12:7191224:AGTT:A	acceptor_gain	1.0000
12:7191225:G:GG	acceptor_gain	1.0000
12:7191225:GTTG:G	acceptor_gain	1.0000
12:7191354:GAGAG:G	donor_gain	1.0000
12:7191356:GAG:G	donor_gain	1.0000
12:7191356:GAGGT:G	donor_loss	1.0000
12:7191357:AGG:A	donor_loss	1.0000
12:7191358:GGT:G	donor_loss	1.0000
12:7191359:G:C	donor_loss	1.0000
12:7191359:G:GG	donor_gain	1.0000
12:7191360:T:A	donor_loss	1.0000
12:7191566:A:AG	acceptor_gain	1.0000
12:7191567:A:AG	acceptor_gain	1.0000
12:7191568:G:GG	acceptor_gain	1.0000
12:7191568:GCC:G	acceptor_gain	1.0000
12:7191568:GCCC:G	acceptor_gain	1.0000
12:7191673:TCCC:T	donor_gain	1.0000
12:7191691:G:GT	donor_gain	1.0000
12:7191695:T:G	donor_gain	1.0000
12:7191696:TACAG:T	donor_loss	1.0000
12:7191699:AGG:A	donor_loss	1.0000
12:7191700:GG:G	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000100324 (12:7193202 T>C), RS1000102287 (12:7191452 T>C,G), RS1000139601 (12:7199321 C>G), RS1000152700 (12:7192878 T>A), RS1000198736 (12:7214787 A>G), RS1000364770 (12:7211224 C>G,T), RS1000546594 (12:7211643 G>C,T), RS1000611689 (12:7213121 G>T), RS1000734480 (12:7215515 A>G), RS1000802260 (12:7216798 G>T), RS1000935081 (12:7211864 G>A,C), RS1001126293 (12:7199440 A>C), RS1001208483 (12:7206071 T>C), RS1001261994 (12:7199700 G>A), RS1001356873 (12:7187133 C>G,T)

Disease associations

OMIM: gene MIM:600414 | disease phenotypes: MIM:202370, MIM:214110, MIM:616716, MIM:215100, MIM:214100, MIM:227646, MIM:614862

GenCC curated gene-disease

Disease	Classification	Inheritance
peroxisome biogenesis disorder 2A (Zellweger)	Definitive	Autosomal recessive
peroxisome biogenesis disorder	Definitive	Autosomal recessive
peroxisome biogenesis disorder 2B	Definitive	Autosomal recessive
rhizomelic chondrodysplasia punctata type 5	Strong	Autosomal recessive
Zellweger spectrum disorders	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
peroxisome biogenesis disorder	Definitive	AR

Mondo (11): peroxisome biogenesis disorder 2B (MONDO:0008736), peroxisome biogenesis disorder 2A (Zellweger) (MONDO:0008954), rhizomelic chondrodysplasia punctata type 5 (MONDO:0014743), rhizomelic chondrodysplasia punctata (MONDO:0015776), Zellweger spectrum disorders (MONDO:0019609), peroxisome biogenesis disorder due to PEX5 defect (MONDO:0100262), peroxisome biogenesis disorder (MONDO:0019234), microcephaly (MONDO:0001149), Fanconi anemia complementation group D2 (MONDO:0009214), peroxisome biogenesis disorder 4A (Zellweger) (MONDO:0013930), peroxisome biogenesis disorder 1A (Zellweger) (MONDO:0008953)

Orphanet (7): Neonatal adrenoleukodystrophy (Orphanet:44), Zellweger syndrome (Orphanet:912), Rhizomelic chondrodysplasia punctata type 5 (Orphanet:468717), Rhizomelic chondrodysplasia punctata (Orphanet:177), Peroxisome biogenesis disorder (Orphanet:79189), Fanconi anemia (Orphanet:84), Infantile Refsum disease (Orphanet:772)

HPO phenotypes

153 total (30 of 153 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000113	Polycystic kidney dysplasia
HP:0000126	Hydronephrosis
HP:0000157	Abnormality of the tongue
HP:0000174	Abnormal palate morphology
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000239	Large fontanelles
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000260	Wide anterior fontanel
HP:0000262	Turricephaly
HP:0000268	Dolichocephaly
HP:0000271	Abnormality of the face
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000474	Thickened nuchal skin fold
HP:0000486	Strabismus

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001848_316	IgG glycosylation	9.000000e-07
GCST003542_196	Night sleep phenotypes	5.000000e-06
GCST010002_206	Refractive error	3.000000e-62

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005193	serum IgG glycosylation measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D018902	Chondrodysplasia Punctata, Rhizomelic	C05.116.099.708.195.200; C16.320.565.663.265; C18.452.648.663.265
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D015211	Zellweger Syndrome	C06.552.970; C10.228.140.163.100.968; C12.050.351.968.419.978; C12.200.777.419.978; C12.950.419.978; C16.131.077.970; C16.320.565.189.968; C16.320.565.663.970; C18.452.132.100.968; C18.452.648.189.968; C18.452.648.663.970
C563301	Peroxisome Biogenesis Disorder, Complementation Group 4 (supp.)
C536664	Peroxisome biogenesis disorders (supp.)
C531857	Zellweger leukodystrophy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
titanium dioxide	increases expression	1
butyraldehyde	decreases expression	1
beta-methylcholine	affects expression	1
arsenic disulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Estradiol	increases expression	1
Lead	affects expression	1
Thiram	decreases expression	1
Triiodothyronine	increases expression	1
Vitamin E	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases abundance, increases expression	1
Magnetite Nanoparticles	increases expression	1

Cellosaurus cell lines

8 cell lines: 5 cancer cell line, 2 finite cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3DR	Abcam HEK293T PEX5 KO	Transformed cell line	Female
CVCL_C7Y8	HAP1 PEX5 (-) 1	Cancer cell line	Male
CVCL_C7Y9	HAP1 PEX5 (-) 2	Cancer cell line	Male
CVCL_C7YA	HAP1 PEX5 (-) 3	Cancer cell line	Male
CVCL_C7YB	HAP1 PEX5 (-) 4	Cancer cell line	Male
CVCL_E2GM	HAP1 PEX5 (-) 5	Cancer cell line	Male
CVCL_VQ71	PBD005	Finite cell line
CVCL_VQ73	PBD018	Finite cell line

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01838941	PHASE3	COMPLETED	Betaine and Peroxisome Biogenesis Disorders
NCT00007020	PHASE3	COMPLETED	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
NCT03856866	PHASE2	COMPLETED	Hydroxychloroquine Administration for Reduction of Pexophagy
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT05969977	PHASE1	UNKNOWN	A First-in-Human Phase 1 Study of Plasmalogen Precursor PPI-1011 in Healthy Adult Volunteers to Assess Safety, Tolerability, and Pharmacokinetics
NCT04569162	Not specified	RECRUITING	Rhizomelic Chondrodysplasia Punctata Registry
NCT01668186	Not specified	RECRUITING	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
NCT03440905	Not specified	COMPLETED	Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
NCT06190626	Not specified	RECRUITING	Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
NCT00004442	Not specified	TERMINATED	Study of Bile Acids in Patients With Peroxisomal Disorders
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT04031287	Not specified	UNKNOWN	RCDP Natural History Study
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
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