ABCB4 wt Allele

Preferred Label : ABCB4 wt Allele;

NCIt synonyms : PGY3; PFIC-3; MDR2; MDR3; P-Glycoprotein-3/Multiple Drug Resistance-3 Gene; ICP3; ABC21; Multidrug Resistance 3 Gene; GBD1; ATP-Binding Cassette, Subfamily B, Member 4 Gene; P Glycoprotein 3/Multiple Drug Resistance 3 Gene; ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 4 wt Allele; MDR2/3;

NCIt definition : Human ABCB4 wild-type allele is located in the vicinity of 7q21.1 and is approximately 79 kb in length. This allele, which encodes multidrug resistance protein 3, plays a role in the intramembrane transport of phosphatidylcholine and the export of organic anions and drugs across the plasma membrane. Mutation of the gene is associated with progressive familial intrahepatic cholestasis 2, intrahepatic cholestasis of pregnancy 3 and gall bladder disease 3.;

GenBank Accession Number : M23234;

Details

Origin ID

C123863;

UMLS CUI

C4084872;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily B member 4 [ORDO Gene]
- Atp-binding cassette, subfamily b, member 4 [OMIM gene]
- Cholestasis, intrahepatic, of pregnancy 3 [OMIM Phenotype]
- Cholestasis, progressive familial intrahepatic, 3 [OMIM Phenotype]
- Gallbladder disease 1 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 3 [ORDO Disease]
- intrahepatic cholestasis of pregnancy 3 [DO Concept]
- progressive familial intrahepatic cholestasis 3 [DO Concept]
OMIM relation
- Atp-binding cassette, subfamily b, member 4 [OMIM gene]
See also inter- (CISMeF)
- Progressive familial intrahepatic cholestasis type 3 [ICD-11 More detail]
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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q21.1 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- Multi-Drug Resistance Factor Pathway [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]
- Phospholipid Metabolism [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Tumorigenesis [NCIt concept]

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