PEX6, Official Symbol PEX6provided by HGNC Official Full Name peroxisomal biogenesis factor 6provided by HGNC Primary source HGNC:HGNC:8859 See related Ensembl:ENSG00000124587 MIM:601498; AllianceGenome:HGNC:8859 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Ubiquitous expression in prostate (RPKM 9.4), ovary (RPKM 8.7) and 25 other tissues See more Orthologs mouse all