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| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1538299
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1538299
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|---|---|
| Preferred Name | ataxin-2 |
| Definitions |
The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm) and seems to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the translation of genetic information to produce proteins.~One region of the ATXN2 gene contains a 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 approximately 22 times within the gene.
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| Synonyms |
ATXN2
ATX2
SCA2
ataxin 2
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm) and seems to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the translation of genetic information to produce proteins.~One region of the ATXN2 gene contains a 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 approximately 22 times within the gene. |
|---|---|
| altLabel |
ATXN2
ATX2
SCA2
ataxin 2
|
| prefLabel | ataxin-2
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| DB XR ID | NCBI Gene:6311~OMIM:601517
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1538299
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| Semantic type UMLS property | |
| cui | C1538299
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