PEX7 Back

peroxisomal biogenesis factor 7

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PEX7
This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD).

Community Annotation of PEX7 Add / Edit PEX7: Annotations

No community annotations yet for PEX7.
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

PEX7 is highly significantly mutated in
(none)
PEX7 is significantly mutated in
(none)
PEX7 is near significance in
(none)

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

Data details


• Mutation list for PEX7