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PEX6 encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6.
AI132582; D130055I09Rik; HMLR2; mKIAA4177; PAF 2; Paf2; Paf-2; PBD4A; PDB4B; Peroxin 6; Peroxin-6; peroxisomal AAA-type ATPase 1; peroxisomal biogenesis factor 6; Peroxisomal-type ATPase 1; peroxisome assembly factor 2; peroxisome biogenesis factor 6; PEX6; PXAAA1; RP1-125M3.3
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100 µg