Variants
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TARDBP Gene

TAR DNA binding protein

ALIAS SYMBOLS

  • TDP-43

  • ALS10

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Description

The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). This protein is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. The TDP-43 protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. This protein can also bind to RNA, a chemical cousin of DNA, to ensure the RNA's stability. The TDP-43 protein is involved in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the TDP-43 protein controls the production of different versions of certain proteins. This process is known as alternative splicing. The TDP-43 protein can influence various functions of a cell by regulating protein production.

The TARDBP gene is particularly active (expressed) during early development before birth when new tissues are forming. Many of the proteins whose production is influenced by the TDP-43 protein are involved in nervous system and organ development.

CHROMOSOME

1


LOCATION

p36.22


LOCUS TYPE

gene with protein product

VARIANTS

183

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:11571

  • NCBI

    23435

  • OMIM

    605078

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