PEX13: Peroxisomal Biogenesis Factor 13
A key component of the peroxisomal import machinery, mutations in PEX13 cause Zellweger spectrum disorders.
Gene Information Card
| Symbol | PEX13 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 5194 ncbi.nlm.nih.gov/gene/5194 |
| Ensembl ID | ENSG00000162928 |
| UniProt ID | Q92968 |
| OMIM ID | 601789 |
| HGNC ID | 8855 |
| Aliases | PBD11A, PBD11B, ZWS, ZWS1 |
Description
PEX13 encodes peroxisomal biogenesis factor 13, a peroxisomal membrane protein that is a component of the peroxisomal importomer. It is essential for the import of matrix proteins into peroxisomes, functioning as a docking factor for the PTS1 and PTS2 receptor complexes. Defects in PEX13 cause peroxisomal biogenesis disorders (PBDs), including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome (PBD1A) | Loss-of-function mutations in PEX13 impair peroxisomal matrix protein import, leading to defective peroxisome assembly and metabolic dysfunction. | ClinVar, OMIM |
| Neonatal adrenoleukodystrophy (PBD1B) | Milder PEX13 mutations reduce peroxisomal import efficiency, causing a less severe phenotype with adrenal and neurological involvement. | ClinVar, OMIM |
| Infantile Refsum disease (PBD1C) | Hypomorphic PEX13 variants result in partial peroxisomal function, manifesting with retinitis pigmentosa, hearing loss, and developmental delay. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.8 | Low |
| Testis | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| HEK 293 | 6.2 | Embryonic kidney cells |
| SH-SY5Y | 4.5 | Neuroblastoma cell line |
| HeLa | 5.0 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.937C>T (p.Arg313Trp) | Missense | Rare | Impairs PEX13 docking function, associated with Zellweger syndrome. |
| c.802G>A (p.Gly268Arg) | Missense | Rare | Reduces PEX13 stability and peroxisomal import, linked to neonatal adrenoleukodystrophy. |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein function, causes severe Zellweger syndrome. |
Mutation functional classification
Loss of Function (LOF)
Most PEX13 mutations are loss-of-function, leading to impaired peroxisomal matrix protein import and peroxisome biogenesis defects.
Gain of Function (GOF)
No gain-of-function mutations reported for PEX13.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting the importomer complex, though autosomal recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • Peroxisomal membrane | • Protein binding |
| • Peroxisome organization | • Protein import into peroxisome matrix |
| • PTS1 receptor docking |
Pathways
• Peroxisomal protein import
• Peroxisome biogenesis
Protein Summary
PEX13 is a 403-amino acid peroxisomal membrane protein with two transmembrane domains and a C-terminal SH3 domain. It forms a docking complex with PEX14 and PEX17, facilitating the translocation of PTS1- and PTS2-tagged proteins into the peroxisomal matrix. The SH3 domain interacts with the PEX5 receptor, while the N-terminal region binds PEX14. Mutations disrupting these interactions lead to peroxisomal biogenesis disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX13 Knockout HEK293 Cell Line | EDJ-KQ5442 | Human | 5194 | Details Get a Quote |
| PEX13 Knockout HeLa Cell Line | EDJ-KQ27381 | Human | 5194 | Details Get a Quote |
| PEX13 Knockout A-549 Cell Line | EDJ-KQ28626 | Human | 5194 | Details Get a Quote |
| PEX13 Knockout HCT 116 Cell Line | EDJ-KQ28627 | Human | 5194 | Details Get a Quote |
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