Article
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Human mutation - 1 Dec 2001
Kemp S, Pujol A, Waterham H R, van Geel B M, Boehm C D, Raymond G V, Cutting G R, Wanders R J, Moser H W
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unpredictable variation in phenotypic expression. Phenotypes include the rapidly progressive childhood cerebral form (CCALD), the milder adult form,...
Topics
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters
- Adrenoleukodystrophy
- Databases, Nucleic Acid
- Genotype
- Humans
- Mutation
- Phenotype