Anti-PEX7 (aa 2-99) polyclonal antibody

Species Reactivity

Human; Mouse

Immunogen

PEX7 (NP_000279, 2 a.a. ~ 99 a.a) partial recombinant protein with GST tag. The sequence is SAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLF RSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAK

Conjugate

Alternative Names

PEX7; peroxisomal biogenesis factor 7; RD; PBD9B; PTS2R; RCDP1; peroxin-7; PTS2 receptor; peroxisomal PTS2 receptor; peroxisome targeting signal 2 receptor; peroxisomal targeting signal 2 receptor;

Entrez Gene ID

UniProt ID

Antigen Description

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).

Pathway

Peroxisome;