ABCD3 Back

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

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of 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.

Community Annotation of ABCD3 Add / Edit ABCD3: Annotations

No community annotations yet for ABCD3.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ABCD3 is highly significantly mutated in
(none)
ABCD3 is significantly mutated in
(none)
ABCD3 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for ABCD3