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  • Human LRP2 wild-type allele is located in the vicinity of 2q31.1 and is approximately 236 kb in length. This allele, which encodes low-density lipoprotein receptor-related protein 2, is involved in the endocytosis of lipoproteins, extracellular matrix proteins and secreted proteases. Mutation of the gene is associated with Donnai-Barrow syndrome.
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