loading...| Preferred Name | Ataxins | |
| Synonyms |
Ataxia Proteins, Spinocerebellar Protein, Spinocerebellar Ataxia Ataxin Protein, Ataxin Ataxin Proteins Proteins, Ataxin Ataxin Protein Proteins, Spinocerebellar Ataxia Spinocerebellar Ataxia Proteins Spinocerebellar Ataxia Protein Ataxia Protein, Spinocerebellar |
|
| Definitions |
A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000067528 |
|
| altLabel |
Ataxia Proteins, Spinocerebellar Protein, Spinocerebellar Ataxia Ataxin Protein, Ataxin Ataxin Proteins Proteins, Ataxin Ataxin Protein Proteins, Spinocerebellar Ataxia Spinocerebellar Ataxia Proteins Spinocerebellar Ataxia Protein Ataxia Protein, Spinocerebellar |
|
| AQL |
AD AE AG AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR |
|
| cui |
C4042851 |
|
| DC |
1 |
|
| definition |
A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset. |
|
| DX |
20160101 |
|
| FX |
D020754 |
|
| HN |
2016 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000096 http://purl.bioontology.org/ontology/MESH/Q000172 http://purl.bioontology.org/ontology/MESH/Q000627 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000493 http://purl.bioontology.org/ontology/MESH/Q000494 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000138 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000008 http://purl.bioontology.org/ontology/MESH/Q000009 http://purl.bioontology.org/ontology/MESH/Q000032 http://purl.bioontology.org/ontology/MESH/Q000037 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000302 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000592 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000819 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000506 http://purl.bioontology.org/ontology/MESH/Q000187 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000633 http://purl.bioontology.org/ontology/MESH/Q000600 |
|
| Inverse of RB |
0 |
|
| Inverse of RO | ||
| Machine permutation |
2016 |
|
| MDA |
20150706 |
|
| MMR |
20200527 |
|
| MN |
D12.776.660.075 D12.776.631.069 |
|
| notation |
D000067528 |
|
| prefLabel |
Ataxins |
|
| TERMUI |
T000998070 T000874561 T000871238 T000998068 T000872147 T000998069 |
|
| TH |
NLM (2016) NLM (2021) |
|
| tui |
T116 T123 |
|
| subClassOf |