|SwissProt ID Link
||Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.
||Peroxisome membrane; Multi-pass membrane protein.
|Involvement in Disease
||Adrenoleukodystrophy: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency
. It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD
, adult cerebral ALD
and 'Addison disease only'
phenotype. The disease is caused by mutations affecting the gene represented in this entry.
The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31.
||Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.
||Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Contains 1 ABC transmembrane type-1 domain.
Contains 1 ABC transporter domain.