Gene Symbol | PEX6 |
Entrez Gene ID | 5190 |
Full Name | peroxisomal biogenesis factor 6 |
Synonyms | HMLR2,PAF-2,PAF2,PBD4A,PDB4B,PXAAA1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3); Peroxisome biogenesis disorder 4B, 614863 (3); Heimler syndrome 2, 616617 (3) |