Products

Western Blot (Cell lysate)

Entrez GeneID

Protein Accession#

Gene Name

ABCD3

Gene Alias

ABC43, PMP70, PXMP1

Gene Description

ATP-binding cassette, sub-family D (ALD), member 3

Omim ID

Gene Ontology

Gene Summary

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. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq

Other Designations

ATP-binding cassette, sub-family D, member 3|OTTHUMP00000012428|Peroxisomal membrane protein-1 (70kD)|dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))|peroxisomal membrane protein 1 (70kD, Zellweger syndrome)