PEX5L
Peroxisomal Biogenesis Factor 5 Like
Gene Information Card
| Symbol | PEX5L |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 5 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 64208 ncbi.nlm.nih.gov/gene/64208 |
| Ensembl ID | ENSG00000114739 |
| UniProt ID | Q8N6T7 |
| OMIM ID | 618259 |
| HGNC ID | 8860 |
| Aliases | PEX5R, PEX5L, PEX5-related |
Description
PEX5L (peroxisomal biogenesis factor 5 like) encodes a protein that shares homology with PEX5, a receptor for peroxisomal matrix proteins containing a type 1 peroxisomal targeting signal (PTS1). The PEX5L protein is involved in peroxisomal protein import and may play a role in peroxisome biogenesis and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder | Impaired peroxisomal protein import due to PEX5L dysfunction | Limited evidence; inferred from homology to PEX5 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.2 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| HepG2 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal matrix protein import | • protein targeting to peroxisome |
| • peroxisome |
Pathways
• Peroxisomal protein import
Protein Summary
PEX5L is a 639-amino acid protein that contains tetratricopeptide repeat (TPR) domains characteristic of PEX5 family members. It localizes to the cytoplasm and peroxisomal membrane, facilitating the docking and translocation of PTS1-containing proteins into the peroxisomal matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX5L Knockout HEK293 Cell Line | EDJ-KQ11142 | Human | 51555 | Details Get a Quote |
| PEX5L Knockout HeLa Cell Line | EDJ-KQ56327 | Human | 51555 | Details Get a Quote |
| PEX5L Knockout A-549 Cell Line | EDJ-KQ64815 | Human | 51555 | Details Get a Quote |
| PEX5L Knockout HCT 116 Cell Line | EDJ-KQ73259 | Human | 51555 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
