ABCD4

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ATP-binding cassette, sub-family D (ALD), member 4
Identifiers
Symbol(s) ABCD4; ABC41; EST352188; P70R; P79R; PMP69; PXMP1L
External IDs OMIM: 603214 MGI1349217 Homologene3703
RNA expression pattern

PBB GE ABCD4 203981 s at tn.png

PBB GE ABCD4 203982 s at tn.png

More reference expression data

Orthologs
Human Mouse
Entrez 5826 19300
Ensembl ENSG00000119688 ENSMUSG00000021240
Uniprot O14678 Q80Y28
Refseq NM_020323 (mRNA)
NP_064719 (protein)
NM_008992 (mRNA)
NP_033018 (protein)
Location Chr 14: 73.82 - 73.84 Mb Chr 12: 85.49 - 85.51 Mb
Pubmed search [1] [2]

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]


Overview

ATP-binding cassette, sub-family D (ALD), member 4, also known as ABCD4, is a human gene.[1]

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.[1]

See also

References

Further reading

  • Holzinger A, Kammerer S, Roscher AA (1997). "Primary structure of human PMP69, a putative peroxisomal ABC-transporter.". Biochem. Biophys. Res. Commun. 237 (1): 152–7. PMID 9266848. doi:10.1006/bbrc.1997.7102. 
  • Shani N, Jimenez-Sanchez G, Steel G; et al. (1998). "Identification of a fourth half ABC transporter in the human peroxisomal membrane.". Hum. Mol. Genet. 6 (11): 1925–31. PMID 9302272. 
  • 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. PMID 9521874. doi:10.1006/geno.1997.5177. 
  • 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. 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. PMID 12111378. doi:10.1007/s100380200041. 
  • 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. PMID 12477932. doi:10.1073/pnas.242603899. 
  • 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. PMID 15800013. doi:10.1093/hmg/ddi140. 
  • 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. 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. PMID 16344560. doi:10.1101/gr.4039406. 
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External links

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

[[Category:Solute carrier family]




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