ABCD4

ATP-binding cassette, sub-family D (ALD), member 4
Identifiers
Symbols	ABCD4 ; ABC41; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L
External IDs	OMIM: 603214 MGI: 1349217 HomoloGene: 3703 GeneCards: ABCD4 Gene
Gene ontology Molecular function • ATP binding • ATPase activity, coupled to transmembrane movement of substances Cellular component • lysosomal membrane • peroxisome • peroxisomal membrane • endoplasmic reticulum membrane • integral component of membrane • ATP-binding cassette (ABC) transporter complex Biological process • vitamin metabolic process • water-soluble vitamin metabolic process • cobalamin metabolic process • small molecule metabolic process • transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5826	19300
Ensembl	ENSG00000119688	ENSMUSG00000021240
UniProt	O14678	O89016
RefSeq (mRNA)	NM_005050	NM_008992
RefSeq (protein)	NP_005041	NP_033018
Location (UCSC)	Chr 14: 74.29 – 74.3 Mb	Chr 12: 84.6 – 84.62 Mb
PubMed search

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

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. doi:10.1093/hmg/6.11.1925. PMID 9302272.
3. "Entrez Gene: ABCD4 ATP-binding cassette, sub-family D (ALD), member 4".

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. PMC 139241. 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. PMC 1356129. PMID 16344560.

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.