Ataxin-2
| Ataxin-2 | ||
|---|---|---|
| Properties of human protein | ||
| Secondary to quaternary structure | Mono- / dimer | |
| Isoforms | 4th | |
| Identifier | ||
| Gene name | ATXN2 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Vertebrates | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 6311 | 20239 |
| Ensemble | ENSG00000204842 | ENSMUSG00000042605 |
| UniProt | Q99700 | O70305 |
| Refseq (mRNA) | NM_001310121 | NM_009125 |
| Refseq (protein) | NP_001297050 | NP_033151 |
| Gene locus | Chr 12: 111.45 - 111.6 Mb | Chr 5: 121.71 - 121.82 Mb |
| PubMed search | 6311 |
20239
|
Ataxin 2 (ATX2) is a protein found in vertebrates ; its exact biological function is not clear. In humans, there are four isoforms located in the cytoplasm of the brain , heart , liver , skeletal muscles , pancreas and placenta . Mutations in ATXN2 - gene can neurodegenerative hereditary spinocerebellar ataxia type 2 (SCA2), and amyotrophic lateral sclerosis trigger type. 13
The biological role of ataxin 2 has not yet been clarified in detail, but researchers suspect that ataxin 2 plays a role in RNA processing and endocytosis . It is also assumed that ataxin 2 plays a role in similar cellular processes as huntingtin , the protein which in its mutated form causes Huntington's disease.
literature
- Lee J, Kim M, Itoh TQ, Lim C: Ataxin-2: A Versatile Posttranscriptional Regulator and Its Implication in Neural Function. In: Wiley Interdiscip Rev RNA. tape 9 , no. 6 , November 2018, p. e1488 , doi : 10.1002 / wrna , PMID 29869836 .
- Ostrowski LA, Hall AC, Itoh TQ and Mekhail K: Ataxin-2: From RNA Control to Human Health and Disease. In: Genes (Basel) . tape 8 , no. 6 , June 2017, p. 157 , doi : 10.3390 / genes8060157 , PMID 28587229 .
- Velázquez-Pérez LC, Rodríguez-Labrada R, Fernandez-Ruiz J: Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches. In: Front Neurol. tape 8 , September 2017, p. 472 , doi : 10.3389 / fneur.2017.00472 , PMID 28955296 .