PEX19 (Peroxisomal Biogenesis Factor 19): A Key Player in Peroxisome Membrane Assembly and Zellweger Spectrum Disorders
Comprehensive gene card, expression, mutations, and clinical significance of PEX19
Gene Information Card
| Symbol | PEX19 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 5824 ncbi.nlm.nih.gov/gene/5824 |
| Ensembl ID | ENSG00000130054 |
| UniProt ID | P40855 |
| OMIM ID | 600279 |
| HGNC ID | 8858 |
| Aliases | D1S2223E, HK33, PXF, PXMP1 |
Description
PEX19 encodes peroxisomal biogenesis factor 19, a cytosolic chaperone and import receptor essential for peroxisome membrane assembly. It binds newly synthesized peroxisomal membrane proteins (PMPs) in the cytosol and delivers them to the peroxisomal membrane via interaction with PEX3. Defects in PEX19 cause Zellweger spectrum disorders (ZSDs), a group of autosomal recessive peroxisome biogenesis disorders characterized by severe neurological and hepatic dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome (ZS) | Loss-of-function mutations impair PMP import, leading to peroxisome deficiency and metabolic dysfunction. | ClinVar, OMIM |
| Neonatal adrenoleukodystrophy (NALD) | Milder ZSD variant with residual peroxisome function due to hypomorphic PEX19 mutations. | ClinVar, OMIM |
| Infantile Refsum disease (IRD) | Mildest ZSD form; mutations reduce but do not abolish PEX19 activity. | ClinVar, OMIM |
| Peroxisome biogenesis disorder 12A (Zellweger) | Pathogenic variants in PEX19 cause this specific complementation group. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.4 | Medium |
| Kidney | 9.8 | Low |
| Brain | 7.2 | Low |
| Heart | 6.5 | Low |
| Testis | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Liver cancer cell line; high expression |
| A549 | 10.5 | Lung carcinoma; moderate expression |
| HeLa | 8.9 | Cervical adenocarcinoma; moderate expression |
| K562 | 6.3 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Ter) | Nonsense | Rare | Loss of function; premature truncation |
| c.442G>A (p.Gly148Arg) | Missense | Rare | Disrupts PEX3 binding; loss of function |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of function; no protein synthesis |
| c.604C>T (p.Arg202Ter) | Nonsense | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Most PEX19 mutations are loss-of-function, leading to impaired PMP import and peroxisome biogenesis defects.
Gain of Function (GOF)
No gain-of-function mutations reported; PEX19 acts as a chaperone, and overactivity is not pathogenic.
Dominant Negative (DN)
Not observed; PEX19 mutations are recessive, requiring biallelic loss for disease.
View complete mutation data：
Gene Ontology (GO)
| • peroxisome membrane targeting | • protein import into peroxisome matrix |
| • peroxisome organization | • chaperone binding |
| • protein homodimerization activity | • cytosol |
Pathways
• Peroxisome biogenesis
• Peroxisomal protein import
• Fatty acid oxidation (peroxisomal)
Protein Summary
PEX19 is a 33 kDa farnesylated protein predominantly cytosolic, with a C-terminal domain that binds PMPs and an N-terminal domain that interacts with PEX3 on the peroxisomal membrane. It functions as a cycling receptor, shuttling PMPs from the cytosol to the peroxisome. Its farnesylation is critical for membrane association and function. Mutations lead to peroxisome biogenesis disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX19 Knockout HEK293 Cell Line | EDJ-KQ5611 | Human | 5824 | Details Get a Quote |
| PEX19 Knockout A-549 Cell Line | EDJ-KQ28901 | Human | 5824 | Details Get a Quote |
| PEX19 Knockout HCT 116 Cell Line | EDJ-KQ28902 | Human | 5824 | Details Get a Quote |
| PEX19 Knockout HeLa Cell Line | EDJ-KQ28903 | Human | 5824 | Details Get a Quote |
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