Aliases for ABCD4 Gene
External Ids for ABCD4 Gene
Previous Symbols for ABCD4 Gene
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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCD4 Gene
ABCD4 (ATP-Binding Cassette, Sub-Family D (ALD), Member 4) is a Protein Coding gene. Diseases associated with ABCD4 include methylmalonic aciduria and homocystinuria, cblj type and methylmalonic acidemia with homocystinuria, type cblj. Among its related pathways are Peroxisome and ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCD3.
UniProtKB/Swiss-Prot for ABCD4 Gene
May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.