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ABCD1

MIM.300371 Xq28

Wednesday 29 March 2006

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