PEX7 Gene: Peroxisomal Biogenesis Factor 7
Genetic insights into PEX7-related disorders: Refsum disease and peroxisome biogenesis disorders
Gene Information Card
| Symbol | PEX7 |
|---|---|
| Full Name | Peroxisomal biogenesis factor 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 5199 ncbi.nlm.nih.gov/gene/5199 |
| Ensembl ID | ENSG00000112357 |
| UniProt ID | O75335 |
| OMIM ID | 601757 |
| HGNC ID | 8860 |
| Aliases | PTS2 receptor; Peroxin-7; RCDP1 |
Description
The PEX7 gene encodes peroxisomal biogenesis factor 7, a cytosolic receptor that recognizes peroxisomal targeting signal 2 (PTS2) on proteins destined for the peroxisomal matrix. It is essential for the import of PTS2-containing enzymes, including those involved in plasmalogen biosynthesis and fatty acid oxidation. Mutations in PEX7 cause peroxisome biogenesis disorders, most notably rhizomelic chondrodysplasia punctata type 1 (RCDP1) and Refsum disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rhizomelic chondrodysplasia punctata type 1 (RCDP1) | Loss-of-function mutations impair PTS2-mediated protein import, leading to deficient plasmalogen synthesis and phytanic acid oxidation. | OMIM #215100; ClinVar |
| Refsum disease (adult Refsum disease) | Milder mutations reduce PEX7 activity, causing accumulation of phytanic acid due to impaired peroxisomal alpha-oxidation. | OMIM #266500; ClinVar |
| Peroxisome biogenesis disorder (general) | Defective PEX7 leads to multiple peroxisomal enzyme deficiencies, affecting lipid metabolism and development. | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.7 | Low |
| Heart | 5.9 | Low |
| Testis | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| A549 | 7.5 | Lung carcinoma |
| K562 | 5.1 | Leukemia |
| MCF7 | 4.3 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.875A>G (p.Tyr292Cys) | Missense | Rare | Impairs PTS2 binding; associated with RCDP1 |
| c.504C>A (p.Cys168Ter) | Nonsense | Rare | Truncated protein; loss of function |
| c.112delC (p.Leu38SerfsTer2) | Frameshift | Rare | Premature stop; loss of function |
| c.2T>C (p.Met1Thr) | Start codon loss | Rare | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most PEX7 mutations are loss-of-function, leading to reduced or absent PTS2 receptor activity, causing RCDP1 or Refsum disease.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; PEX7 mutations are typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • intracellular protein transport (GO:0006886) |
| • peroxisome organization (GO:0007031) | • protein ubiquitination (GO:0016567) |
| • PTS2 protein import into peroxisome (GO:0033143) | • identical protein binding (GO:0042802) |
Pathways
• Peroxisomal protein import
• Plasmalogen biosynthesis
• Fatty acid alpha-oxidation
Protein Summary
PEX7 is a 323-amino acid protein that functions as a cytosolic receptor for PTS2-containing proteins. It binds to PTS2 signals and facilitates their translocation into the peroxisomal matrix via interaction with the peroxisomal membrane. Defects in PEX7 disrupt the import of enzymes such as alkyl-dihydroxyacetonephosphate synthase (AGPS) and phytanoyl-CoA hydroxylase (PHYH), leading to metabolic abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX7 Knockout HEK293 Cell Line | EDJ-KQ5438 | Human | 5191 | Details Get a Quote |
| PEX7 Knockout HCT 116 Cell Line | EDJ-KQ27374 | Human | 5191 | Details Get a Quote |
| PEX7 Knockout A-549 Cell Line | EDJ-KQ28621 | Human | 5191 | Details Get a Quote |
| PEX7 Knockout HeLa Cell Line | EDJ-KQ28622 | Human | 5191 | Details Get a Quote |
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