ABCD1 is a member of the ATP-binding cassette (ABC) transporter superfamily. ABCD1 (ALDP) maps to Xq28 and is mutated in X-linked adrenoleukodystrophy (ALD) (MIM.300100).
The ATP-binding cassette (ABC) transporter superfamily contains membrane proteins that translocate a wide variety of substrates across extra- and intracellular membranes, including metabolic products, lipids and sterols, and drugs.
Pathology
germline mutations of ABCD1 in
- X-linked adrenoleukodystrophy (ALD) (MIM.300100)
- adrenomyeloneuropathy (MIM.300100)
- Addison disease (MIM.240200)
See also
ABCs (ATP-binding cassette (ABC) transporter superfamily)
channelopathies