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Antibody detects endogenous levels of total 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).
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: PCDP1; Peroxin 7; Peroxin-7; peroxisomal biogenesis factor 7; peroxisomal PTS2 receptor; Peroxisomal targeting signal 2 receptor; peroxisome biogenesis factor 7; peroxisome targeting signal 2 receptor; PEX7 protein; PTS2 receptor
基因别名: MmPEX7; PBD9B; PEX7; PTS2R; RCDP1; RD
UniProt ID: (Human) O00628, (Mouse) P97865
Entrez Gene ID: (Human) 5191, (Rat) 308718, (Mouse) 18634