PEX6

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolPEX6
Nameperoxisomal biogenesis factor 6
Typeprotein-coding
Sourcemygene

Summary

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. Several transcript variants encodi

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