ABCD2
| ATP-binding cassette, sub-family D (ALD), member 2 | |||||||||||
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| Symbols | ABCD2 ; ABC39; ALDL1; ALDR; ALDRP; hALDR | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 55873 | ||||||||||
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| Species | Human | Mouse | |||||||||
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| RefSeq (protein) | n/a | n/a | |||||||||
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ATP-binding cassette, sub-family D (ALD), member 2, also known as ABCD2, 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 this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.[1]
See also
References
Further reading
- Petroni A, Cappa M, Carissimi R; et al. (2007). "Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy". J. Inherit. Metab. Dis. 30 (5): 828. doi:10.1007/s10545-007-0591-1. PMID 17602313.
- Weinhofer I, Kunze M, Rampler H; et al. (2006). "Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation". J. Biol. Chem. 280 (50): 41243–51. doi:10.1074/jbc.M509450200. PMID 16249184.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- 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.
- Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochem. Biophys. Res. Commun. 291 (5): 1180–6. doi:10.1006/bbrc.2002.6568. PMID 11883941.
- Gloeckner CJ, Mayerhofer PU, Landgraf P; et al. (2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p". Biochem. Biophys. Res. Commun. 271 (1): 144–50. doi:10.1006/bbrc.2000.2572. PMID 10777694.
- Sacksteder KA, Jones JM, South ST; et al. (2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. PMID 10704444.
- Liu LX, Janvier K, Berteaux-Lecellier V; et al. (2000). "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters". J. Biol. Chem. 274 (46): 32738–43. PMID 10551832.
- Holzinger A, Mayerhofer P, Berger J; et al. (1999). "Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy". Biochem. Biophys. Res. Commun. 258 (2): 436–42. doi:10.1006/bbrc.1999.0535. PMID 10329405.
- Netik A, Forss-Petter S, Holzinger A; et al. (1999). "Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy". Hum. Mol. Genet. 8 (5): 907–13. PMID 10196381.
- Holzinger A, Kammerer S, Berger J, Roscher AA (1997). "cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter". Biochem. Biophys. Res. Commun. 239 (1): 261–4. doi:10.1006/bbrc.1997.7391. PMID 9345306.
- Savary S, Troffer-Charlier N, Gyapay G; et al. (1997). "Chromosomal localization of the adrenoleukodystrophy-related gene in man and mice". Eur. J. Hum. Genet. 5 (2): 99–101. PMID 9195160.
- Lombard-Platet G, Savary S, Sarde CO; et al. (1996). "A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern". Proc. Natl. Acad. Sci. U.S.A. 93 (3): 1265–9. PMID 8577752.
External links
- ABCD2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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