Variants
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BRCA1 Gene

BRCA1 DNA repair associated

ALIAS SYMBOLS

  • RNF53

  • BRCC1

  • PPP1R53

  • FANCS

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Description

The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way.

The BRCA1 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein interacts with several other proteins to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and they also occur when chromosomes exchange genetic material in preparation for cell division. By helping to repair DNA, the BRCA1 protein plays a critical role in maintaining the stability of a cell's genetic information.

Research suggests that the BRCA1 protein also regulates the activity of other genes and plays an essential role in embryonic development. To carry out these functions, the BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell division.

CHROMOSOME

17


LOCATION

q21.31


LOCUS TYPE

gene with protein product

VARIANTS

5,352

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:1100

  • NCBI

    672

  • OMIM

    113705

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