Title : Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.

Pub. Date : 2022 Jan 14

PMID : 35053399






1 Functional Relationships(s)
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1 The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids. Fatty Acids ATP binding cassette subfamily D member 1 Homo sapiens