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| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1415504
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1415504
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|---|---|
| Preferred Name | huntingtin |
| Definitions |
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.
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| Synonyms |
Huntington's disease protein
IT15
HD_HUMAN
huntingtin (Huntington disease)
HTT
HD
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Huntington's disease protein
IT15
HD_HUMAN
huntingtin (Huntington disease)
HTT
HD
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| prefLabel | huntingtin
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| DB XR ID | NCBI Gene:3064~OMIM:613004
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1415504
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| Semantic type UMLS property | |
| cui | C1415504
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