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GENATLAS PHENOTYPE |
last update : 13-05-2014 |
Symbol | PBD4 |
Location | 2p16.1 |
Name | peroxisome biogenesis disorder 4, Zellweger spectrum |
Other name(s) | PBD complementation group 13 |
Corresponding gene | PEX13 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/peroxisomal |
Type | disease |
Gene product |
Name | peroxin 13 (PEX13), with temperature-sensitive mutations involved in variable severity of the disease, attenuate PBD phenotype, and infantile Refsum disease |
Remark(s) | peroxisomal biogenesis defects can be divided into two broad clinical spectra : the Zellweger spectrum(80 percent of PBD patients) and rhizomelia chondrodysplasia punctata (RCPD) spectrum |