基因名:
PEX16
产品别名:
PBD8A; PBD8B; PEX16; peroxisomal biogenesis factor 16; peroxisomal biogenesis factor 16; peroxisomal biogenesis factor 16; peroxin 16; peroxisomal membrane protein PEX16; peroxisome biogenesis factor 16; 过氧化物酶体生物合成因子16;
背景信息:
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]