| 释义 |
- See also
- References
- Further reading
- External links
{{Infobox_gene}}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] See also- ATP-binding cassette transporter
References1. ^{{cite journal | vauthors = 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 |date=Sep 1997 | pmid = 9266848 | pmc = | doi = 10.1006/bbrc.1997.7102 }}
2. ^{{cite journal | vauthors = Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D | title = Identification of a fourth half ABC transporter in the human peroxisomal membrane | journal = Hum Mol Genet | volume = 6 | issue = 11 | pages = 1925–31 |date=Jan 1998 | pmid = 9302272 | pmc = | doi =10.1093/hmg/6.11.1925 }}
3. ^1 {{cite web | title = Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5826| accessdate = }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=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 | vauthors=Holzinger A, Roscher AA, Landgraf P |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=10.1016/S0014-5793(98)00354-8 |display-authors=etal}}
- {{cite journal | vauthors=Iida A, Saito S, Sekine A |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 |display-authors=etal}}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |display-authors=etal}}
- {{cite journal | vauthors=Asheuer M, Bieche I, Laurendeau I |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 |display-authors=etal}}
- {{cite journal | vauthors=Kuiper H, Spötter A, Williams JL |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=10.1159/000084217 |display-authors=etal}}
- {{cite journal | vauthors=Kimura K, Wakamatsu A, Suzuki Y |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.4039406 | pmc=1356129 |display-authors=etal}}
{{refend}} External links - {{MeshName|ABCD4+protein,+human}}
- {{UCSC gene info|ABCD4}}
{{NLM content}}{{ABC transporters}}{{DEFAULTSORT:Abcd4}}{{membrane-protein-stub}} 2 : Solute carrier family|Genes on human chromosome 14 |