ABCB1 2 Allele

Preferred Label : ABCB1 2 Allele;

NCIt synonyms : MDR1-T; P-Glycoprotein Transporter T Allele; ABCB1-T Allele; ABCB1, 3435C T; ABCB1-T; MDR1-T Allele; ABCB1: c3435C T;

NCIt definition : 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.;

NCIt note : Ethnicity Association: African American; Asian; Black African; Caucasian;

Details

Origin ID

C45684;

UMLS CUI

C1706632;

OMIM relation
- Atp-binding cassette, subfamily b, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Crohn Disease [NCIt concept]
- Gallbladder Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Drug Efflux [NCIt concept]
- Ligand Binding [NCIt concept]
- Multidrug Resistance Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Tumorigenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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