PEX16
Peroxisomal Biogenesis Factor 16
Gene Information Card
| Symbol | PEX16 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 9409 ncbi.nlm.nih.gov/gene/9409 |
| Ensembl ID | ENSG00000121680 |
| UniProt ID | Q9Y5Y5 |
| OMIM ID | 603360 |
| HGNC ID | 8857 |
| Aliases | PBD8A, PBD8B, PEX16-1, PEX16-2 |
Description
PEX16 encodes a peroxisomal membrane protein essential for peroxisome biogenesis. It functions in the import of peroxisomal membrane proteins (PMPs) and the formation of pre-peroxisomal vesicles. Defects in PEX16 cause peroxisome biogenesis disorders (PBDs), including Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata type 8 (RCDP8).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisome biogenesis disorder 8A (Zellweger) | Loss-of-function mutations impair peroxisomal membrane assembly, leading to severe neurological and hepatic dysfunction. | ClinVar, OMIM #614876 |
| Peroxisome biogenesis disorder 8B (mild variant) | Hypomorphic mutations allow residual peroxisome function, resulting in milder phenotypes with later onset. | ClinVar, OMIM #614877 |
| Rhizomelic chondrodysplasia punctata type 8 | Defective PEX16 disrupts plasmalogen synthesis and peroxisomal matrix protein import. | OMIM #614877 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte line |
| HEK293 | 7.8 | Embryonic kidney |
| SH-SY5Y | 5.3 | Neuroblastoma |
| HeLa | 4.9 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103*) | Nonsense | Rare | Loss of function; truncation of peroxisomal targeting signal |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation; complete loss of function |
| c.668G>A (p.Arg223Gln) | Missense | Rare | Impaired membrane insertion; reduced peroxisome number |
Mutation functional classification
Loss of Function (LOF)
Most PEX16 mutations are loss-of-function (nonsense, frameshift, start loss) leading to absent or non-functional protein, causing severe Zellweger syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; PEX16 disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal membrane (GO:0005778) | • integral component of peroxisomal membrane (GO:0005779) |
| • protein import into peroxisome matrix (GO:0016558) | • peroxisome organization (GO:0007031) |
| • protein binding (GO:0005515) |
Pathways
• Peroxisome biogenesis (Reactome: R-HSA-9033241)
• Peroxisomal protein import (KEGG: hsa04146)
Protein Summary
PEX16 is a 336-amino acid peroxisomal membrane protein with two transmembrane domains. It acts as a docking factor for newly synthesized peroxisomal membrane proteins (PMPs) and is required for the early stages of peroxisome formation. The protein localizes to the peroxisomal membrane and is involved in recruiting PEX3 and PEX19 to initiate membrane assembly.
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