ABCB1 2 Allele

Source:http://linkedlifedata.com/resource/umls/id/C1706632

NCI: Human ABCB1-T allele is a variant form of the human ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1) gene, located at 7q21.1, which encodes multidrug resistance protein 1. This allele exhibits a SNP (3435 C>T) in exon 26 that results in wobble. This alteration in DNA sequence decreases the in vivo catalytic activity of the protein encoded by the ABCB1-2 allele. Duodenal expression of multidrug resistance protein 1 is also significantly reduced in individuals that have a homozygous phenotype for this allele.

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