ABCD3

ATP-binding cassette sub-family D member 3 is a is_associated_with::protein that in humans is encoded by the ABCD3 is_associated_with::gene.

Function
The protein encoded by this gene is a member of the superfamily of is_associated_with::ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis.

Clinical significance
Mutations have been associated with some forms of is_associated_with::Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.

Interactions
ABCD3 has been shown to interact with is_associated_with::PEX19.