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ATP-binding cassette, sub-family D (ALD), member 4
Identifiers
Symbols ABCD4; ABC41; EST352188; P70R; P79R; PMP69; PXMP1L
External IDs OMIM603214 MGI1349217 HomoloGene3703 GeneCards: ABCD4 Gene
RNA expression pattern
PBB GE ABCD4 203981 s at tn.png
PBB GE ABCD4 203982 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5826 19300
Ensembl ENSG00000119688 ENSMUSG00000021240
UniProt O14678 Q80Y28
RefSeq (mRNA) NM_020323 NM_008992
RefSeq (protein) NP_064719 NP_033018
Location (UCSC) Chr 14:
73.82 - 73.84 Mb
Chr 12:
85.49 - 85.51 Mb
PubMed search [1] [2]

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]

Contents

See also

References

  1. ^ Holzinger A, Kammerer S, Roscher AA (Sep 1997). "Primary structure of human PMP69, a putative peroxisomal ABC-transporter". Biochem Biophys Res Commun 237 (1): 152-7. doi:10.1006/bbrc.1997.7102. PMID 9266848.  
  2. ^ Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D (Jan 1998). "Identification of a fourth half ABC transporter in the human peroxisomal membrane". Hum Mol Genet 6 (11): 1925-31. PMID 9302272.  
  3. ^ a b "Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5826.  

Further reading

  • Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D (1998). "Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1).". Genomics 48 (2): 203–8. doi:10.1006/geno.1997.5177. PMID 9521874.  
  • Holzinger A, Roscher AA, Landgraf P, et al. (1998). "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. doi:10.1016/S0014-5793(98)00354-8. PMID 9599016.  
  • Iida A, Saito S, Sekine A, et al. (2002). "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. doi:10.1007/s100380200041. PMID 12111378.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Asheuer M, Bieche I, Laurendeau I, et al. (2005). "Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.". Hum. Mol. Genet. 14 (10): 1293–303. doi:10.1093/hmg/ddi140. PMID 15800013.  
  • Kuiper H, Spötter A, Williams JL, et al. (2005). "Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34.". Cytogenet. Genome Res. 109 (4): 533. doi:10.1159/000084217. PMID 15909363.  
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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