ABCD4

ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.

ABCD4
Identifiers
Aliases	ABCD4, ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L, ATP binding cassette subfamily D member 4
External IDs	OMIM: 603214; MGI: 1349217; HomoloGene: 3703; GeneCards: ABCD4; OMA:ABCD4 - orthologs
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12 D1|12 39.3 cM Start 84,648,238 bp End 84,664,187 bp
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in yolk sac right kidney epiblast Rostral migratory stream granulocyte lip embryo Paneth cell embryo crypt of lieberkuhn of small intestine BioGPS More reference expression data
Gene ontology Molecular function ATPase activity nucleotide binding ATP binding ATPase-coupled transmembrane transporter activity Cellular component membrane endoplasmic reticulum membrane lysosomal membrane ATP-binding cassette (ABC) transporter complex peroxisomal membrane integral component of membrane peroxisome Biological process cobalamin metabolic process transmembrane transport cellular response to leukemia inhibitory factor Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5826 19300 Ensembl ENSG00000119688 ENSMUSG00000021240 UniProt O14678 O89016 RefSeq (mRNA) NM_005050 NM_020324 NM_020325 NM_020326 NM_008992 RefSeq (protein) NP_005041 NP_001340520 NP_001340521 NP_001340522 NP_001340523 NP_001340524 NP_001340525 NP_001340526 NP_001340527 NP_001340528 NP_001340529 NP_001340530 NP_001340531 NP_001340532 NP_001340533 NP_001340534 NP_001340535 NP_001340536 NP_001340537 NP_001340538 NP_001340539 NP_064720 NP_064730 NP_033018 Location (UCSC) n/a Chr 12: 84.65 – 84.66 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

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. Bibcode:2002PNAS...9916899M. 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 U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCD4 genome location and ABCD4 gene details page in the UCSC Genome Browser.

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