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).
蛋白别名: PCDP1; Peroxin 7; Peroxin-7; peroxisomal PTS2 receptor; Peroxisomal targeting signal 2 receptor; peroxisome targeting signal 2 receptor; PEX7 protein; PTS2 receptor
基因别名: PBD9B; PEX7; PTS2R; RCDP1; RD
UniProt ID: (Human) O00628
Entrez Gene ID: (Human) 5191