Abstract
Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly manifests as demyelination of the central nervous system (CNS). The isolation of the ALD gene by positional cloning has led to the identification of a variety of mutations in the ALD gene. One hundred and ten mutations have been identified to date, of which approximately 50% are missense mutations. While rapid DNA-based diagnoses of ALD is now possible, there appears to be no simple correlation between genotype and phenotype.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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ATP Binding Cassette Transporter, Subfamily D, Member 1
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ATP-Binding Cassette Transporters / genetics
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Adrenoleukodystrophy / genetics*
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Amino Acid Sequence
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Base Sequence
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Frameshift Mutation
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Genotype
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Humans
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Membrane Proteins / genetics
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Mutation*
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Phenotype
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Point Mutation
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Sequence Deletion
Substances
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ABCD1 protein, human
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ATP Binding Cassette Transporter, Subfamily D, Member 1
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ATP-Binding Cassette Transporters
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Membrane Proteins