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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PEX7
peroxisomal biogenesis factor 7
Chromosome 6 Β· 6q23.3
NCBI Gene: 5191Ensembl: ENSG00000112357.14HGNC: HGNC:8860UniProt: A0A7I2V2J8
50PubMed Papers
23Diseases
0Drugs
142Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein import into peroxisome matrixperoxisome matrix targeting signal-2 bindingprotein bindingenzyme bindingrhizomelic chondrodysplasia punctata type 1Refsum diseaseadult Refsum diseaserhizomelic chondrodysplasia punctata
✦AI Summary

PEX7 is a cytosolic receptor essential for peroxisomal import of proteins bearing C-terminal PTS2 (peroxisomal targeting signal type-2) sequences 1. The protein binds PTS2-containing cargo in the cytosol and forms a ternary complex with PEX5, which is translocated through the peroxisomal membrane via the PEX13-PEX14 docking complex 2. Recently, PEX39 was identified as a co-factor that stabilizes PEX7-cargo interactions and facilitates handover to membrane translocons 3. After cargo release in the peroxisomal matrix, PEX7 is recycled back to the cytosol through a separate retrotranslocon pathway 2. PEX7 mutations cause rhizomelic chondrodysplasia punctata (RCDP/peroxisome biogenesis disorder complementation group 11), an autosomal recessive condition characterized by developmental disabilities 1. The L292ter mutation, accounting for 50% of mutant PEX7 alleles, shows evidence of a founder effect in Caucasian populations 4. RCDP results from impaired import of PTS2-containing proteins, disrupting peroxisomal ether lipid biosynthesis and other metabolic functions confined to peroxisomes 5. Unlike broader peroxisome biogenesis disorders (Zellweger syndrome spectrum), RCDP is uniquely associated with PEX7 gene defects 5.

Sources cited
1
PEX7 encodes the peroxisomal PTS2 receptor; PEX7 mutations cause RCDP with identified inactivating mutations (L292ter, A218V, G217R)
PMID: 9090381
2
PEX7-PTS2 cargo complexes translocate through YG phase of PEX13; PEX7 returns to cytosol via separate pathway; PEX39 extracts and reloads PEX7
PMID: 40346349
3
PEX39 is a cytosolic peroxin that stabilizes PEX7-cargo interactions and facilitates handover to PEX13 via (R/K)PWE motifs
PMID: 40739340
4
PEX7 spans 102 kb on chromosome 6q21-q22.2 with 10+ exons; L292ter accounts for 50% of mutant alleles with identical haplotype in homozygotes
PMID: 10673331
5
PEX7 gene defects cause RCDP (rhizomelic chondrodysplasia punctata), one of two types of peroxisome biogenesis disorders
PMID: 17055079
6
PEX7 and co-receptor recognize PTS2 motifs as amphiphilic Ξ±-helix; PTS2 cargo-receptor complexes translocate across peroxisomal membrane; lack of functional PTS2 import causes RCDP
PMID: 31751594
Disease Associationsβ“˜23
rhizomelic chondrodysplasia punctata type 1Open Targets
0.82Strong
Refsum diseaseOpen Targets
0.82Strong
adult Refsum diseaseOpen Targets
0.64Moderate
rhizomelic chondrodysplasia punctataOpen Targets
0.62Moderate
Joubert syndrome and related disordersOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
peroxisome biogenesis disorderOpen Targets
0.48Moderate
connective tissue diseaseOpen Targets
0.39Weak
eye diseaseOpen Targets
0.37Weak
Peroxisome biogenesis disorder-Zellweger syndrome spectrumOpen Targets
0.37Weak
retinopathyOpen Targets
0.34Weak
Retinal dystrophyOpen Targets
0.30Weak
phototoxic dermatitisOpen Targets
0.29Weak
Abnormality of metabolism/homeostasisOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.14Weak
Intellectual disabilityOpen Targets
0.11Weak
cervical carcinomaOpen Targets
0.11Weak
male infertilityOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
Peroxisome biogenesis disorder 9BUniProt
Peroxisome biogenesis disorder complementation group 11UniProt
Rhizomelic chondrodysplasia punctata 1UniProt
Pathogenic Variants142
NM_000288.4(PEX7):c.130+1G>APathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Retinal disorder
β˜…β˜…β˜†β˜†2026
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|not provided|PEX7-related disorder|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|Retinal disorder|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2026β†’ Residue 292
NM_000288.4(PEX7):c.183del (p.Phe61fs)Pathogenic
Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|not provided|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2026β†’ Residue 61
NM_000288.4(PEX7):c.429del (p.Val144fs)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2026β†’ Residue 144
NM_000288.4(PEX7):c.116_130+20delLikely pathogenic
Peroxisome biogenesis disorder 9B
β˜…β˜…β˜†β˜†2026
NM_000288.4(PEX7):c.903+1G>CPathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|PEX7-related disorder|not provided|Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1
β˜…β˜…β˜†β˜†2026
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|PEX7-related disorder|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Inborn genetic diseases|not provided|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 40
NM_000288.4(PEX7):c.804-2A>CPathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)Likely pathogenic
Peroxisome biogenesis disorder 9B|PEX7-related disorder|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025β†’ Residue 158
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|not provided|Rhizomelic chondrodysplasia punctata|Inborn genetic diseases|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 217
NM_000288.4(PEX7):c.188+1G>CPathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|not provided|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025β†’ Residue 115
NM_000288.4(PEX7):c.188+1G>APathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|not provided|Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025β†’ Residue 206
NM_000288.4(PEX7):c.340-1G>TLikely pathogenic
Peroxisome biogenesis disorder 9B|Melanoma|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B|Connective tissue disorder|Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1;Peroxisome biogenesis disorder 9B
β˜…β˜…β˜†β˜†2025β†’ Residue 93
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025β†’ Residue 14
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)Pathogenic
Peroxisome biogenesis disorder 9B|Rhizomelic chondrodysplasia punctata type 1|Rhizomelic chondrodysplasia punctata
β˜…β˜…β˜†β˜†2025β†’ Residue 7
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)Pathogenic
Rhizomelic chondrodysplasia punctata type 1|Peroxisome biogenesis disorder 9B|not provided|Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1|PEX7-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 218
NM_000288.4(PEX7):c.517del (p.Ser173fs)Pathogenic
Rhizomelic chondrodysplasia punctata|Peroxisome biogenesis disorder 9B
β˜…β˜…β˜†β˜†2025β†’ Residue 173
View on ClinVar β†—
Related Genes
PEX39Co-mentioned in literature100%PHYHProtein interaction98%TRIM37Protein interaction94%PEX5LProtein interaction90%FAM185AProtein interaction90%TYSND1Protein interaction85%
Tissue Expression6 tissues
Heart
100%
Brain
63%
Liver
44%
Bone Marrow
38%
Ovary
34%
Lung
27%
Gene Interaction Network
Click a node to explore
PEX7PEX39PHYHTRIM37PEX5LFAM185ATYSND1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O00628
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.40–0.94]
RankingsWhere PEX7 stands among ~20K protein-coding genes
  • #8,859of 20,598
    Most Researched50
  • #536of 5,498
    Most Pathogenic Variants142 Β· top 10%
  • #8,755of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedPEX7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Import mechanism of peroxisomal proteins with an N-terminal signal sequence.
PMID: 40346349
Nat Cell Biol Β· 2025
1.00
2
PMID: 20301447
0.90
3
Peroxisome biogenesis disorders.
PMID: 17055079
Biochim Biophys Acta Β· 2006
0.80
4
PEX39 facilitates the peroxisomal import of PTS2-containing proteins.
PMID: 40739340
Nat Cell Biol Β· 2025
0.70
5
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
PMID: 10673331
Genomics Β· 2000
0.60