ABCD1(redirected from OTTHUMP00000025960)
ABCD1A gene on chromosome Xp28, which encodes a member of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies—ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White. The ABCD1 protein product belongs to the ALD subfamily and is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in peroxisomes.
ABCD1 mutations are linked to adernoleukodystrophy.
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