Article
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
American journal of human genetics - 1 Jun 2002
Corzo Deyanira, Gibson William, Johnson Kisha, Mitchell Grant, LePage Guy, Cox Gerald F, Casey Robin, Zeiss Carolyn, Tyson Heidi, Cutting Garry R, Raymond Gerald V, Smith Kirby D, Watkins Paul A, Moser Ann B, Moser Hugo W, Steinberg Steven J
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette-transporter superfamily. Individuals with ABCD1 mutations accumulate very-long-chain fatty acids (VLCFA) (carbon length >22). Childhood cerebral X-ALD is the most devastating...
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