PEX12: Peroxisomal Biogenesis Factor 12
Essential for Peroxisome Assembly and Associated with Zellweger Spectrum Disorders
Gene Information Card
| Symbol | PEX12 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 5193 ncbi.nlm.nih.gov/gene/5193 |
| Ensembl ID | ENSG00000108799 |
| UniProt ID | O00623 |
| OMIM ID | 601758 |
| HGNC ID | 8857 |
| Aliases | PBD3A, PBD3B, PEX12P, peroxin-12 |
Description
PEX12 encodes a peroxisomal membrane protein that is a component of the peroxisomal import machinery. It is involved in the import of peroxisomal matrix proteins by participating in the receptor docking and translocation complex. Mutations in PEX12 cause peroxisomal biogenesis disorders, including Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome | Loss of PEX12 function disrupts peroxisome assembly, impairing matrix protein import and leading to metabolic abnormalities. | ClinVar, OMIM |
| Neonatal adrenoleukodystrophy | Defective peroxisomal biogenesis due to PEX12 mutations results in accumulation of very long-chain fatty acids. | ClinVar, OMIM |
| Infantile Refsum disease | Mild peroxisomal biogenesis disorder caused by hypomorphic PEX12 alleles. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
| Testis | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 5.4 | Embryonic kidney cells |
| HeLa | 4.8 | Cervical adenocarcinoma cells |
| K562 | 3.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.888_889delCT | Frameshift | Unknown | Loss of function, associated with Zellweger syndrome |
| c.26C>T (p.Ser9Leu) | Missense | Unknown | Impaired peroxisome assembly |
| c.622C>T (p.Arg208*) | Nonsense | Unknown | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PEX12 mutations are loss-of-function, leading to defective peroxisome biogenesis and Zellweger spectrum disorders.
Gain of Function (GOF)
No gain-of-function mutations reported for PEX12.
Dominant Negative (DN)
No dominant-negative mutations reported; PEX12 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) | • protein binding (GO:0005515) |
| • peroxisome organization (GO:0007031) |
Pathways
• Peroxisomal protein import (Reactome: R-HSA-9033241)
• Peroxisome biogenesis (KEGG: hsa04146)
Protein Summary
PEX12 is a 359-amino acid peroxisomal membrane protein with a C-terminal zinc-binding domain. It forms part of the peroxisomal importomer complex, interacting with PEX10 and PEX5 to facilitate the translocation of matrix proteins. Defects in PEX12 disrupt peroxisome assembly and cause metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX12 Knockout HEK293 Cell Line | EDJ-KQ50508 | Human | 5193 | Details Get a Quote |
| PEX12 Knockout HeLa Cell Line | EDJ-KQ54118 | Human | 5193 | Details Get a Quote |
| PEX12 Knockout A-549 Cell Line | EDJ-KQ62606 | Human | 5193 | Details Get a Quote |
| PEX12 Knockout HCT 116 Cell Line | EDJ-KQ71080 | Human | 5193 | Details Get a Quote |
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