Variants
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ABCG2 Gene

ATP binding cassette subfamily G member 2 (Junior blood group)

ALIAS SYMBOLS

  • EST157481

  • MXR

  • BCRP

  • ABCP

  • CD338

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Description

The ABCG2 gene belongs to a group of genes called the ATP-binding cassette family; genes in this family provide instructions for making proteins that transport molecules across cell membranes. In the intestines, the ABCG2 protein helps release (secrete) a substance called urate into the urine. Urate is a byproduct of certain normal biochemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. Urate levels are regulated by the kidneys and, to a lesser extent, by the intestines.

The ABCG2 protein also transports certain drugs out of cells. For example, this protein clears some chemotherapy drugs from organs and tissues. Transport of these drugs allows them to have their intended effects and be eliminated from the body.

CHROMOSOME

4


LOCATION

q22.1


LOCUS TYPE

gene with protein product

VARIANTS

15

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:74

  • NCBI

    9429

  • OMIM

    603756

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