ABCD4

ATP-binding cassette, sub-family D (ALD), member 4
Identifiers
Symbols	ABCD4 ; ABC41; EST352188; P70R; P79R; PMP69; PXMP1L
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3703
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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

See also

• ATP-binding cassette transporter

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. doi:10.1006/bbrc.1997.7102. PMID 9266848.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• ABCD4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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

[[Category:Solute carrier family]