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PEX6 is 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.
Gene Name: | peroxisomal biogenesis factor 6 |
Synonyms: | PEX6, PAF2, PBD4A, Peroxin-6, Peroxisome assembly factor 2, Peroxisome biogenesis factor 6, Peroxisomal AAA-type ATPase 1, PXAAA1, PAF-2, PDB4B, Peroxisomal-type ATPase 1 |
Target Sequences: | NM_000287 NP_000278.3 Q13608 |
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