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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Immunogen sequence: MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL FRSFDWNDGL FDVTWSENNE HVLITCSGD
Highest antigen sequence identity to the following orthologs: Mouse - 81%, Rat - 80%.
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 targeting signal 2 receptor; PEX7 protein; PTS2 receptor
基因别名: PEX7; PTS2R
Entrez Gene ID: (Human) 5191