Aubourg P
INSERM U342, Paris, France.
Curr Opin Genet Dev. 1994 Jun;4(3):407-11. doi: 10.1016/0959-437x(94)90029-9.
The gene predisposing for X-linked adrenoleukodystrophy (ALD), the most common peroxisomal disorder, has been identified recently by positional cloning. The ALD protein is a 75 kDa peroxisomal membrane protein belonging to the family of ATP-binding cassette transporter proteins. With the combination of genetic complementation and candidate gene approaches, two genes responsible for Zellweger syndrome, a group of genetically heterogeneous disorders affecting peroxisome biogenesis, have also been identified.
最近通过定位克隆确定了导致X连锁肾上腺脑白质营养不良(ALD)的基因,ALD是最常见的过氧化物酶体疾病。ALD蛋白是一种75 kDa的过氧化物酶体膜蛋白,属于ATP结合盒转运蛋白家族。通过基因互补和候选基因方法相结合,还确定了两个与泽尔韦格综合征相关的基因,泽尔韦格综合征是一组影响过氧化物酶体生物发生的基因异质性疾病。