Variants
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HTT Gene

huntingtin

ALIAS SYMBOLS

  • IT15

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Description

The HTT gene provides instructions for making a protein called huntingtin. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain and is essential for normal development before birth. Huntingtin is found in many of the body's tissues, with the highest levels of activity in the brain. Within cells, this protein may be involved in chemical signaling, transporting materials, attaching (binding) to proteins and other structures, and protecting the cell from self-destruction (apoptosis). Some studies suggest it plays a role in repairing damaged DNA.

One region of the HTT gene contains a particular DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene.

CHROMOSOME

4


LOCATION

p16.3


LOCUS TYPE

gene with protein product

VARIANTS

533

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Phenotypes

External Links

  • HGNC

    HGNC:4851

  • NCBI

    3064

  • OMIM

    613004

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