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PEX12抗体
产品介绍 靶标: PEX12 产品别名: PAF-3; PBD3A; PEX12; peroxisomal biogenesis factor 12; peroxisomal biogenesis factor 12; peroxisome assembly protein 12; peroxin 12; peroxisome assembly factor 3; 背景信息: peroxisomal biogenesis factor 12(PEX12) Homo sapiens 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], 宿主:Rbt |
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