ABCD4 explained

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.^{[1] [2] [3]}

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.^[3]

Further reading

• Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D . Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1) . Genomics . 48 . 2 . 203–8 . 1998 . 9521874 . 10.1006/geno.1997.5177 . free .
• Holzinger A, Roscher AA, Landgraf P . Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter . FEBS Lett. . 426 . 2 . 238–42 . 1998 . 9599016 . 10.1016/S0014-5793(98)00354-8 . etal. free .
• Iida A, Saito S, Sekine A . Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8 . J. Hum. Genet. . 47 . 6 . 285–310 . 2002 . 12111378 . 10.1007/s100380200041 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Asheuer M, Bieche I, Laurendeau I . Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy . Hum. Mol. Genet. . 14 . 10 . 1293–303 . 2005 . 15800013 . 10.1093/hmg/ddi140 . etal. free .
• Kuiper H, Spötter A, Williams JL . Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34 . Cytogenet. Genome Res. . 109 . 4 . 533 . 2005 . 15909363 . 10.1159/000084217 . etal. free .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.

Notes and References

1. Holzinger A, Kammerer S, Roscher AA . Primary structure of human PMP69, a putative peroxisomal ABC-transporter . Biochem Biophys Res Commun . 237 . 1 . 152–7 . Sep 1997 . 9266848 . 10.1006/bbrc.1997.7102 .
2. Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D . Identification of a fourth half ABC transporter in the human peroxisomal membrane . Hum Mol Genet . 6 . 11 . 1925–31 . Jan 1998 . 9302272 . 10.1093/hmg/6.11.1925 . free .
3. Web site: Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4.