"The mouse genetics toolkit: revealing function and mechanism". ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011).^ Collins FS, Rossant J, Wurst W (January 2007)."A conditional knockout resource for the genome-wide study of mouse gene function". ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011).^ "International Knockout Mouse Consortium".^ Mouse Resources Portal, Wellcome Trust Sanger Institute."The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". ^ " Citrobacter infection data for Abcd1".^ " Salmonella infection data for Abcd1".^ a b "Entrez Gene: ABCD1 ATP-binding cassette, sub-family D (ALD), member 1".National Center for Biotechnology Information, U.S. Interactions ĪBCD1 has been shown to interact with PEX19. Twenty four tests were carried out on mutant mice but no significant abnormalities were observed. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. A conditional knockout mouse line, called Abcd1 tm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program - a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists - at the Wellcome Trust Sanger Institute. Model organisms have been used in the study of ABCD1 function. Model organisms Abcd1 knockout mouse phenotype Clinical significance ĭefects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. 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. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). ABC proteins transport various molecules across extra- and intra-cellular membranes. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. very long-chain fatty acid catabolic processĪBCD1 is a protein that transfers fatty acids into peroxisomes.fatty acid beta-oxidation using acyl-CoA oxidase.long-chain fatty acid catabolic process.long-chain fatty acid import into peroxisome.
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