PEX12 Back

peroxisomal biogenesis factor 12

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PEX12

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).

Community Annotation of PEX12 Add / Edit PEX12: Annotations

No community annotations yet for PEX12.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PEX12 is highly significantly mutated in
(none)
PEX12 is significantly mutated in
(none)
PEX12 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for PEX12