Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
HMLR2,PAF-2,PAF2,PBD4A,PDB4B,PXAAA1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5190
MIM: 601498
HGNC: 8859
Ensembl: ENSG00000124587
Variants:
dbSNP: 5190
ClinVar: 5190
TCGA: ENSG00000124587
COSMIC: PEX6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124587 | ENST00000244546 | Q13608 |
| ENSG00000124587 | ENST00000304611 | Q13608 |
| ENSG00000124587 | ENST00000304611 | A0A024RD09 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38154976 | 2024 | [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review]. | 0 |
| 38154976 | 2024 | [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review]. | 0 |
| 37144748 | 2023 | A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. | 2 |
| 37144748 | 2023 | A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. | 2 |
| 32214787 | 2020 | Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. | 3 |
| 32866347 | 2020 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | 9 |
| 32214787 | 2020 | Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. | 3 |
| 32866347 | 2020 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | 9 |
| 31374812 | 2019 | Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. | 7 |
| 31831025 | 2019 | Expanding the clinical and genetic spectrum of Heimler syndrome. | 8 |
| 31374812 | 2019 | Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. | 7 |
| 31831025 | 2019 | Expanding the clinical and genetic spectrum of Heimler syndrome. | 8 |
| 29676688 | 2018 | Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. | 6 |
| 29884772 | 2018 | Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol. | 22 |
| 29676688 | 2018 | Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. | 6 |
Citation
Dessen P
PEX6 (peroxisomal biogenesis factor 6)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50260/pex6
