Gene Symbol | PEX1 |
Entrez Gene ID | 5189 |
Full Name | peroxisomal biogenesis factor 1 |
Synonyms | HMLR1,PBD1A,PBD1B,ZWS,ZWS1 |
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 ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3); Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3); Heimler syndrome 1, 234580 (3) |