靶标：
PEX1
产品别名：
HMLR1； PBD1A； PBD1B； ZWS； ZWS1； PEX1； peroxisomal biogenesis factor 1； peroxisomal biogenesis factor 1； peroxisome biogenesis factor 1； Zellweger syndrome； peroxin-1； peroxisome biogenesis disorder protein 1； 过氧化物酶体生物合成因子1(PEX1)；
背景信息：
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],
