ABCD3

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, Jul 2008]

Description

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

Protein family

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Chromosome

1:p21.3 (94883933 - 94984222)

Ensembl ID

ENSG00000117528  (ver. 71.37)

Orthologs

Mouse Abcd3: ENSMUSG00000028127

Human splice variants
Mouse splice variants