Recombinant Human ATP-binding cassette sub-family D member 3 (ABCD3) Protein

Function

Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation (PubMed:11248239, PubMed:24333844, PubMed:25168382, PubMed:29397936). Has fatty acyl-CoA thioesterase and ATPase activities (PubMed:29397936). Probably hydrolyzes fatty acyl-CoAs into free fatty acids prior to their ATP-dependent transport into peroxisomes (By similarity). Thus, play a role in regulation of LCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:24333844, PubMed:25944712)

Subcellular Location

Peroxisome membrane (Multi-pass membrane protein)

Disease Association

Congenital bile acid synthesis defect 5 (CBAS5) : An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. [The disease may be caused by variants affecting the gene represented in this entry] | Oculopharyngodistal myopathy 5 (OPDM5) : An autosomal dominant form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are the presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. [The disease is caused by variants affecting the gene represented in this entry. Pathogenic CCG repeat expansions in the 5'-UTR of ABCD3 have been found in patients of European ancestry]

Subunit

Homodimers (PubMed:17609205). Can form heterodimers with ABCD1 and ABCD2 (PubMed:10551832, PubMed:10777694, PubMed:17609205). Dimerization is necessary to form an active transporter (PubMed:17609205). Interacts with PEX19; mediates the targeting of ABCD3 to peroxisomes (PubMed:10704444, PubMed:16344115, PubMed:17761678)

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• Kamijo K. et al. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. — Biochim. Biophys. Acta (1992)
• Gaertner J. et al. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). — Genomics (1998)
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• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Tamura S. et al. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. — Proc. Natl. Acad. Sci. U.S.A. (1998)