PEX14: Peroxisomal Biogenesis Factor 14
A key component of the peroxisomal import machinery, essential for peroxisome assembly and function.
Gene Information Card
| Symbol | PEX14 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 5195 ncbi.nlm.nih.gov/gene/5195 |
| Ensembl ID | ENSG00000142619 |
| UniProt ID | O75381 |
| OMIM ID | 601791 |
| HGNC ID | 8858 |
| Aliases | PEX14, PBD9B, PBD9A, DKFZp686B23107 |
Description
PEX14 encodes a peroxisomal membrane protein that is a central component of the peroxisomal import machinery. It functions as a docking factor for the PTS1 and PTS2 receptor complexes, facilitating the translocation of proteins into the peroxisome matrix. Mutations in PEX14 cause peroxisome biogenesis disorders, including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome (peroxisome biogenesis disorder 9B) | Loss-of-function mutations impair peroxisomal protein import, leading to defective peroxisome assembly and metabolic dysfunction. | OMIM #614887; ClinVar |
| Peroxisome biogenesis disorder 9A (mild variant) | Hypomorphic mutations reduce but do not eliminate PEX14 function, resulting in a less severe phenotype. | OMIM #614886; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Heart | 5.4 | Medium |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 5.9 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.304C>T (p.Arg102*) | Nonsense | Rare | Premature stop, loss of function |
| c.683G>A (p.Arg228His) | Missense | Rare | Impaired receptor docking, reduced peroxisomal import |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, start loss) lead to loss of PEX14 function, causing severe peroxisome biogenesis disorders.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not reported; PEX14 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal membrane | • protein import into peroxisome matrix |
| • PTS1 receptor binding | • PTS2 receptor binding |
| • peroxisome organization |
Pathways
• Peroxisomal protein import (Reactome: R-HSA-9033241)
• Peroxisome biogenesis (KEGG: hsa04146)
Protein Summary
PEX14 is a 376-amino acid peroxisomal membrane protein with a single transmembrane domain. It forms a docking complex with PEX13 and PEX17, binding the cytosolic receptors PEX5 (PTS1 receptor) and PEX7 (PTS2 receptor) to initiate cargo translocation. The N-terminal domain is critical for receptor interaction, while the C-terminal region anchors the protein to the membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX14 Knockout HEK293 Cell Line | EDJ-KQ3349 | Human | 5195 | Details Get a Quote |
| PEX14 Knockout A-549 Cell Line | EDJ-KQ25004 | Human | 5195 | Details Get a Quote |
| PEX14 Knockout HCT 116 Cell Line | EDJ-KQ25005 | Human | 5195 | Details Get a Quote |
| PEX14 Knockout HeLa Cell Line | EDJ-KQ25006 | Human | 5195 | Details Get a Quote |
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