Primary Identifier | IPR031237 | Type | Family |
Short Name | ALDP |
description | 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 []. 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 []. |