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pex6

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Official Full Name
peroxisomal biogenesis factor 6
Background
This gene 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.
Synonyms
PEX6; peroxisomal biogenesis factor 6; peroxisome biogenesis factor 6; PAF 2; PXAAA1; PAF2; Peroxin 6; Peroxisomal AAA type ATPase 1; peroxin-6; peroxisomal-type ATPase 1; peroxisome assembly factor 2; peroxisomal AAA-type ATPase 1; PAF-2

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