Entrez gene ID | | 5190 |
Official gene symbol | | PEX6 |
Full name | | peroxisomal biogenesis factor 6 |
Aliases | | ,PAF-2,PAF2,PXAAA1, |
Gene 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. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6p21.1 |
Gene position | | 42946981 - 42931611 Map Viewer |
Gene orientation | | minus |
Gene size | | 15371 bp |
Gene sequence |
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OMIM ID | | 601498 |
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