ABCD3

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

Function

The protein encoded by this gene is a member of the superfamily of 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 Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.

See also

• ATP-binding cassette transporter

Interactions

ABCD3 has been shown to interact with PEX19.

External links

• ABCD3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• ABCD3 at The GDB Human Genome Database

This article incorporates text from the United States National Library of Medicine, which is in the public domain.