|Other Names||ATP-binding cassette sub-family D member 2, Adrenoleukodystrophy-like 1, Adrenoleukodystrophy-related protein, hALDR, ABCD2, ALD1, ALDL1, ALDR, ALDRP|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||ALD1, ALDL1, ALDR, ALDRP|
|Cellular Location||Peroxisome membrane; Multi-pass membrane protein|
|Tissue Location||Predominantly expressed in brain and heart.|
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The protein encoded by this gene is a member of thesuperfamily of ATP-binding cassette (ABC) transporters. ABCproteins transport various molecules across extra- andintra-cellular membranes. ABC genes are divided into seven distinctsubfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). Thisprotein is a member of the ALD subfamily, which is involved inperoxisomal import of fatty acids and/or fatty acyl-CoAs in theorganelle. All known peroxisomal ABC transporters are halftransporters which require a partner half transporter molecule toform a functional homodimeric or heterodimeric transporter. Thefunction of this peroxisomal membrane protein is unknown; howeverthis protein is speculated to function as a dimerization partner ofABCD1 and/or other peroxisomal ABC transporters. Mutations in thisgene have been observed in patients with adrenoleukodystrophy, asevere demyelinating disease. This gene has been identified as acandidate for a modifier gene, accounting for the extreme variationamong adrenoleukodystrophy phenotypes. This gene is also acandidate for a complement group of Zellweger syndrome, agenetically heterogeneous disorder of peroxisomal biogenesis.
Matsukawa, T., et al. Neurogenetics (2010) In press :Saito, A., et al. J. Hum. Genet. 54(6):317-323(2009)Maier, E.M., et al. Biochem. Biophys. Res. Commun. 377(1):176-180(2008)Lu, Y., et al. J. Lipid Res. 49(12):2582-2589(2008)Petroni, A., et al. J. Inherit. Metab. Dis. 30 (5), 828 (2007) :
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