PEX12
Gene Information
- Official Symbol: PEX12
- Official Name: peroxisomal biogenesis factor 12
- Aliases and Previous Symbols: N/A
- Entrez ID: 5193
- UniProt: O00623
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].
- UniProt Summary: Required for protein import into peroxisomes. {ECO:0000269|PubMed:9632816}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 4540
- Expression level (log2 read counts): 2.86
PEX12 Expression in NALM6 Cells: 2.86
