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ABCB1

ABCB1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ABCB1 gene?

The official name of this gene is “ATP-binding cassette, sub-family B (MDR/TAP), member 1.”

ABCB1 is the gene's official symbol. The ABCB1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ABCB1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells.

How are changes in the ABCB1 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ABCB1 gene's known or predicted involvement in human disease.

Inflammatory bowel disease 13 (IBD13): A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ABCB1 gene.
  • Colchicine resistance
  • Inflammatory bowel disease 13
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the ABCB1 gene and its association with health conditions.
OMIM
Number
Title

Where is the ABCB1 gene located?

Cytogenetic Location: 7q21.12

Molecular Location on chromosome 7: base pairs 87,503,862 to 87,713,322

The ABCB1 gene is located on the long (q) arm of chromosome 7 at position 21.12.

The ABCB1 gene is located on the long (q) arm of chromosome 7 at position 21.12.

More precisely, the ABCB1 gene is located from base pair 87,503,862 to base pair 87,713,322 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ABCB1?

You and your healthcare professional may find the following resources about ABCB1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ABCB1 gene or gene products?

  • ABC20
  • CD243
  • CLCS
  • GP170
  • MDR1
  • P-GP
  • PGY1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ABCB1?

anus ; ATP ; blood-brain barrier ; chronic ; colitis ; colon ; etiology ; gastrointestinal ; gene ; ileum ; inflammation ; mutation ; polymorphism ; protein ; specificity ; susceptibility ; xenobiotic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 22, 2014