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PEX12 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).
Gene Name: | peroxisomal biogenesis factor 12 |
Synonyms: | PEX12, PAF-3, PBD3A, Peroxisome assembly factor 3, Peroxin-12, Peroxisome assembly protein 12, PAF3, Peroxin 12 |
Target Sequences: | NM_000286 NP_000277.1 O00623 |
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