- ABCD4
ATP-binding cassette, sub-family D (ALD), member 4, also known as ABCD4, is a human
gene .cite web | title = Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5826| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5826| accessdate = ]ee also
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ATP-binding cassette transporter References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Holzinger A, Kammerer S, Roscher AA |title=Primary structure of human PMP69, a putative peroxisomal ABC-transporter. |journal=Biochem. Biophys. Res. Commun. |volume=237 |issue= 1 |pages= 152–7 |year= 1997 |pmid= 9266848 |doi= 10.1006/bbrc.1997.7102
*cite journal | author=Shani N, Jimenez-Sanchez G, Steel G, "et al." |title=Identification of a fourth half ABC transporter in the human peroxisomal membrane. |journal=Hum. Mol. Genet. |volume=6 |issue= 11 |pages= 1925–31 |year= 1998 |pmid= 9302272 |doi=
*cite journal | author=Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D |title=Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). |journal=Genomics |volume=48 |issue= 2 |pages= 203–8 |year= 1998 |pmid= 9521874 |doi= 10.1006/geno.1997.5177
*cite journal | author=Holzinger A, Roscher AA, Landgraf P, "et al." |title=Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. |journal=FEBS Lett. |volume=426 |issue= 2 |pages= 238–42 |year= 1998 |pmid= 9599016 |doi=
*cite journal | author=Iida A, Saito S, Sekine A, "et al." |title=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. |journal=J. Hum. Genet. |volume=47 |issue= 6 |pages= 285–310 |year= 2002 |pmid= 12111378 |doi= 10.1007/s100380200041
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Asheuer M, Bieche I, Laurendeau I, "et al." |title=Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. |journal=Hum. Mol. Genet. |volume=14 |issue= 10 |pages= 1293–303 |year= 2005 |pmid= 15800013 |doi= 10.1093/hmg/ddi140
*cite journal | author=Kuiper H, Spötter A, Williams JL, "et al." |title=Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34. |journal=Cytogenet. Genome Res. |volume=109 |issue= 4 |pages= 533 |year= 2005 |pmid= 15909363 |doi=
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406External links
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[Category:Solute carrier family]
PBB_Controls
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