Adrenoleukodystrophy and other peroxisomal diseases.
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.
Aubourg
P
P
INSERM U342, Paris, France.
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000235:genetics*; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000145:classification / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008830:Microbodies / Q000378:metabolism*; D014960:X Chromosome; D015211:Zellweger Syndrome / Q000235:genetics
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins