ATP binding cassette subfamily D member 1 (ABCD1)

ATP binding cassette subfamily D member 1 (ABCD1) is a peroxisomal membrane protein in the ATP-binding cassette (ABC) transporter family, specifically of the ALD subfamily[1][3][4]. ABCD1 transports very long-chain fatty acids and their CoA esters into peroxisomes, facilitating their β-oxidation and breakdown[1][2][4]. Mutations in ABCD1 disrupt VLCFA metabolism, leading to VLCFA accumulation, which damages the myelin in the nervous system and adrenal cortex[1][5][7]. This results in X-linked adrenoleukodystrophy, a rare neurodegenerative and endocrine disorder with variable onset and severity[5][8]. The transporter’s functional structure consists of transmembrane and nucleotide-binding domains, and it operates as a homodimer or heterodimer in the peroxisomal membrane[2][4][6]. There is currently no approved direct pharmacological modulator of ABCD1; therapy focuses on managing complications and emerging gene therapies[7]. ABCD1 serves both diagnostic and potential therapeutic roles in ALD and related peroxisomal disorders.

Other names

Adrenoleukodystrophy protein (ALDP)ALDABCD1_HUMANAMNATP-binding cassette, sub-family D (ALD), member 1

For investigational therapies (e.g., gene therapy): restoration or replacement of functional ABCD1 to normalize VLCFA import and metabolism. For adrenal hormone replacement: mitigates deficiency caused by VLCFA-induced adrenal gland toxicity, not by direct ABCD1 modulation.