ABCD4
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| View/Edit Human | View/Edit Mouse |
ATP-binding cassette sub-family D member 4 is a protein that in humans is encoded by the ABCD4 gene.[4][5][6]
The protein encoded by this gene is a member of the superfamily of
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.[6]
References
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021240 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9266848.
- PMID 9302272.
- ^ a b "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. 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. 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.
- 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.
- 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.
- 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.
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.
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