Gene Symbol | PEX2 |
Entrez Gene ID | 5828 |
Full Name | peroxisomal biogenesis factor 2 |
Synonyms | PAF1,PBD5A,PBD5B,PMP3,PMP35,PXMP3,RNF72,ZWS3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3); Peroxisome biogenesis disorder 5B, 614867 (3) |