Gene Symbol | PEX16 |
Entrez Gene ID | 9409 |
Full Name | peroxisomal biogenesis factor 16 |
Synonyms | PBD8A,PBD8B |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3); Peroxisome biogenesis disorder 8B, 614877 (3) |