PEX11B
Peroxisomal Biogenesis Factor 11 Beta
Gene Information Card
| Symbol | PEX11B |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 11 Beta |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 8799 ncbi.nlm.nih.gov/gene/8799 |
| Ensembl ID | ENSG00000131779 |
| UniProt ID | O96011 |
| OMIM ID | 603867 |
| HGNC ID | 8854 |
| Aliases | PEX11-beta, PEX11BETA, PEX14B |
Description
PEX11B encodes a peroxisomal membrane protein involved in peroxisome division and proliferation. It is essential for normal peroxisome biogenesis; defects can lead to peroxisomal disorders such as Zellweger syndrome spectrum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome spectrum | Loss-of-function mutations impair peroxisome division, leading to defective peroxisomal metabolism | ClinVar, OMIM |
| Peroxisomal biogenesis disorder 14B | Homozygous or compound heterozygous PEX11B mutations cause a milder form of Zellweger spectrum | OMIM #614886 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Brain | 8.7 | Low |
| Heart | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocyte line |
| HEK 293 | 9.8 | Embryonic kidney |
| SH-SY5Y | 7.5 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.650C>T (p.Pro217Leu) | Missense | <0.01% | Impaired peroxisome division |
| c.832_833del (p.Leu278Glufs*2) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported PEX11B mutations are loss-of-function, leading to reduced peroxisome number and impaired beta-oxidation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peroxisomal membrane (GO:0005778) | • peroxisome organization (GO:0007031) |
| • peroxisome fission (GO:0016559) | • identical protein binding (GO:0042802) |
Pathways
• Peroxisome biogenesis (Reactome R-HSA-9033241)
• Peroxisomal lipid metabolism (Reactome R-HSA-8978868)
Protein Summary
PEX11B is a 259-amino acid peroxisomal integral membrane protein that promotes peroxisome elongation and fission. It interacts with other peroxins (e.g., PEX19) to regulate peroxisome number and morphology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX11B Knockout HEK293 Cell Line | EDJ-KQ6365 | Human | 8799 | Details Get a Quote |
| PEX11B Knockout A-549 Cell Line | EDJ-KQ29021 | Human | 8799 | Details Get a Quote |
| PEX11B Knockout HCT 116 Cell Line | EDJ-KQ30335 | Human | 8799 | Details Get a Quote |
| PEX11B Knockout HeLa Cell Line | EDJ-KQ30336 | Human | 8799 | Details Get a Quote |
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