LP156997-1
ABCB1 gene
Active
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 Name
- ABCB1 gene
- 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
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ABCB1 基因 Synonyms: P-gp; |
| it-IT | Italian (Italy) | ABCB1, gene Synonyms: Gene ABCB1 |
| ru-RU | Russian (Russian Federation) | ABCB1 ген |
| es-ES | Spanish (Spain) | Gen ABCB1 (MDR1) |
| tr-TR | Turkish (Turkey) | ABCB1 geni |
| nl-NL | Dutch (Netherlands) | ABCB1-gen |
| el-GR | Greek (Greece) | Γονίδιο ABCB1 Synonyms: Γονίδιο ABCB1 |
LOINC Copyright
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