PEX11G
Peroxisomal Biogenesis Factor 11 Gamma
Gene Information Card
| Symbol | PEX11G |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 11 Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 23170 ncbi.nlm.nih.gov/gene/23170 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q96HA9 |
| OMIM ID | 616511 |
| HGNC ID | 26195 |
| Aliases | PEX11gamma, PEX11GAMMA |
Description
PEX11G encodes a member of the PEX11 family of peroxisomal membrane proteins involved in peroxisome division and proliferation. The protein localizes to the peroxisomal membrane and is required for normal peroxisome abundance and morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisome biogenesis disorder (Zellweger spectrum) | Loss of PEX11G function may impair peroxisome division, leading to reduced peroxisome number and metabolic dysfunction. | Limited; rare variants reported in individuals with peroxisomal dysfunction (ClinVar). |
| Peroxisomal fission defect | Deficiency in PEX11G disrupts peroxisomal membrane fission, resulting in enlarged peroxisomes. | Experimental evidence in cell models (PMID: 17034758). |
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 | Hepatocyte-derived |
| HEK 293 | 5.3 | Embryonic kidney |
| HeLa | 4.6 | Cervical carcinoma |
| SH-SY5Y | 3.2 | 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% | Likely loss of start codon; predicted loss of function (ClinVar). |
| c.200C>T (p.Pro67Leu) | missense | <0.01% | Unknown significance; not reported in disease. |
Mutation functional classification
Loss of Function (LOF)
Predicted for truncating or start-loss variants; leads to impaired peroxisome division.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • peroxisome fission (GO:0016559) | • peroxisomal membrane (GO:0005778) |
| • protein homodimerization activity (GO:0042803) |
Pathways
• Peroxisome biogenesis (Reactome: R-HSA-9033241)
• Peroxisomal protein import (Reactome: R-HSA-9033500)
Protein Summary
PEX11G is a 259-amino acid peroxisomal membrane protein with a single transmembrane domain. It promotes peroxisome elongation and fission by recruiting dynamin-related proteins (e.g., DLP1) to the peroxisomal surface. The protein forms homodimers and interacts with other PEX11 family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX11G Knockout HEK293 Cell Line | EDJ-KQ11123 | Human | 92960 | Details Get a Quote |
| PEX11G Knockout A-549 Cell Line | EDJ-KQ39104 | Human | 92960 | Details Get a Quote |
| PEX11G Knockout HCT 116 Cell Line | EDJ-KQ37793 | Human | 92960 | Details Get a Quote |
| PEX11G Knockout HeLa Cell Line | EDJ-KQ57850 | Human | 92960 | Details Get a Quote |
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