InterPro domain: IPR031237

ATP-binding cassette sub-family D member 1 (ABCD1) is a an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane. Its nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity [ 1 ]. Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy (X-ALD), a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very-long chain fatty acids in tissues throughout the body [ 2 ].

1. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. FEBS Lett. 492, 66-72
2. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim. Biophys. Acta 1822, 1465-74