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PEX6 peroxisomal biogenesis factor 6

Gene ID: 5190, updated on 8-Aug-2021
Gene type: protein coding
Also known as: PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1

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 encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Genomic context

Location:
6p21.1
Sequence:
Chromosome: 6; NC_000006.12 (42963865..42980224, complement)
Total number of exons:
17

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