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: 5193
MIM: 601758
HGNC: 8854
Ensembl: ENSG00000108733
Variants:
dbSNP: 5193
ClinVar: 5193
TCGA: ENSG00000108733
COSMIC: PEX12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108733 | ENST00000225873 | O00623 |
| ENSG00000108733 | ENST00000585380 | K7ELY8 |
| ENSG00000108733 | ENST00000586663 | A0A075B773 |
| ENSG00000108733 | ENST00000613219 | O00623 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33123925 | 2021 | A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. | 0 |
| 33123925 | 2021 | A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. | 0 |
| 19105186 | 2009 | Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. | 31 |
| 19105186 | 2009 | Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. | 31 |
| 17534573 | 2007 | A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. | 14 |
| 17534573 | 2007 | A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. | 14 |
| 15241794 | 2004 | Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. | 16 |
| 15241794 | 2004 | Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. | 16 |
| 12456682 | 2003 | PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12. | 13 |
| 12456682 | 2003 | PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12. | 13 |
Citation
Dessen P
PEX12 (peroxisomal biogenesis factor 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71836/pex12-(peroxisomal-biogenesis-factor-12)
