Version 2.77

Descriptions

ABCB1 (also known as MDR1) is one of many ubiquitous adenosine triphosphate (ATP)-binding cassette (ABC) genes. ABCB1 encodes a transmembrane transporter, P-glycoprotein (P-gp), and plays a role in cell defense against environmental attacks. Many polymorphisms have been reported in this gene, including 1236C>T (rs1128503) in exon 12, 2677G>T (rs2032582) in exon 21 and 3435C>T (rs1045642) in exon 26. The 2677G>T variant is associated with a 2.6 fold higher risk of developing lung cancer. Individuals homozygous for the 2677G>T variant and heterozygous for the 3435C>T variant have up to a 20 fold higher risk of developing lung cancer. Source: Regenstrief LOINC, PMID: 17120199

The ABCB1 gene (ATP-binding cassette, sub-family B (MDR/TAP), member 1) [HGNC Gene ID:40] is located on chromosome 7q21.12. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5243] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
ABCB1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2012-07-17
Construct for LOINC Short Name
ABCB1

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP156997-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ABCB1 基因
Synonyms: P-gp;CD243;GP170;ABC20;ATP-binding cassette, sub-family B (MDR/TAP), member 1;ATP-结合盒, 子家族 B (MDR/TAP), 成员 1;NCBI NM_000927
es-ES Spanish (Spain) Gen ABCB1 (MDR1)
it-IT Italian (Italy) ABCB1, gene
Synonyms: Gene ABCB1
tr-TR Turkish (Turkey) ABCB1 geni
ru-RU Russian (Russian Federation) ABCB1 ген
nl-NL Dutch (Netherlands) ABCB1-gen