| Primary Identifier | IPR031239 | Type | Family |
| Short Name | ABCD2 |
| description | The ABC transporter family is a group of membrane proteins that use the hydrolysis of ATP to power the translocation of a wide variety of substrates across cellular membranes. ABC transporters minimally consist of two conserved regions: a highly conserved nucleotide-binding domain (NBD) and a less conserved transmembrane domain (TMD). Eukaryotic ABC proteins are usually organised either as full transporters (containing two NBDs and two TMDs), or as half transporters (containing one NBD and one TMD), that have to form homo- or heterodimers in order to constitute a functional protein [].ATP-binding cassette sub-family D member 2 (ABCD2) is an ABC half transporter that shares protein sequence similarity with ABCD1 []. It is thought to promote the transport of very long-chain fatty acyl-CoAs into peroxisomes for beta-oxidation []. Dysfunction of ABCD1 causes the human genetic disorder X-ALD, a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very-long chain fatty acids (VLCFA) in tissues throughout the body []. The fact that the expression of ABCD2 restored VLCFA beta-oxidation in X-ALD patient fibroblasts suggests ABCD2 is also involved in the metabolic transport of VLCFA []. |
