ABCD2

ATP-binding cassette, sub-family D (ALD), member 2, also known as ABCD2, is a human gene.cite web | title = Entrez Gene: ABCD2 ATP-binding cassette, sub-family D (ALD), member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=225| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCD2 ATP-binding cassette, sub-family D (ALD), member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=225| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Petroni A, Cappa M, Carissimi R, "et al." |title=Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. |journal=J. Inherit. Metab. Dis. |volume=30 |issue= 5 |pages= 828 |year= 2007 |pmid= 17602313 |doi= 10.1007/s10545-007-0591-1
*cite journal | author=Weinhofer I, Kunze M, Rampler H, "et al." |title=Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation. |journal=J. Biol. Chem. |volume=280 |issue= 50 |pages= 41243–51 |year= 2006 |pmid= 16249184 |doi= 10.1074/jbc.M509450200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC |title=Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. |journal=Biochem. Biophys. Res. Commun. |volume=291 |issue= 5 |pages= 1180–6 |year= 2002 |pmid= 11883941 |doi= 10.1006/bbrc.2002.6568
*cite journal | author=Gloeckner CJ, Mayerhofer PU, Landgraf P, "et al." |title=Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. |journal=Biochem. Biophys. Res. Commun. |volume=271 |issue= 1 |pages= 144–50 |year= 2000 |pmid= 10777694 |doi= 10.1006/bbrc.2000.2572
*cite journal | author=Sacksteder KA, Jones JM, South ST, "et al." |title=PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. |journal=J. Cell Biol. |volume=148 |issue= 5 |pages= 931–44 |year= 2000 |pmid= 10704444 |doi=
*cite journal | author=Liu LX, Janvier K, Berteaux-Lecellier V, "et al." |title=Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. |journal=J. Biol. Chem. |volume=274 |issue= 46 |pages= 32738–43 |year= 2000 |pmid= 10551832 |doi=
*cite journal | author=Holzinger A, Mayerhofer P, Berger J, "et al." |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=258 |issue= 2 |pages= 436–42 |year= 1999 |pmid= 10329405 |doi= 10.1006/bbrc.1999.0535
*cite journal | author=Netik A, Forss-Petter S, Holzinger A, "et al." |title=Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. |journal=Hum. Mol. Genet. |volume=8 |issue= 5 |pages= 907–13 |year= 1999 |pmid= 10196381 |doi=
*cite journal | author=Holzinger A, Kammerer S, Berger J, Roscher AA |title=cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. |journal=Biochem. Biophys. Res. Commun. |volume=239 |issue= 1 |pages= 261–4 |year= 1997 |pmid= 9345306 |doi= 10.1006/bbrc.1997.7391
*cite journal | author=Savary S, Troffer-Charlier N, Gyapay G, "et al." |title=Chromosomal localization of the adrenoleukodystrophy-related gene in man and mice. |journal=Eur. J. Hum. Genet. |volume=5 |issue= 2 |pages= 99–101 |year= 1997 |pmid= 9195160 |doi=
*cite journal | author=Lombard-Platet G, Savary S, Sarde CO, "et al." |title=A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 3 |pages= 1265–9 |year= 1996 |pmid= 8577752 |doi=

External links

*

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