Abstract is: Ataxin 7 (ATXN7) is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the N-terminus. The expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies. ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7). CAG repeat leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal conerod dystrophy. Polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss. Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.
| P11277 | CIViC gene ID | 5112 |
| P594 | Ensembl gene ID | ENSG00000163635 |
| P351 | Entrez Gene ID | 6314 |
| P2888 | exact match | http://identifiers.org/ncbigene/6314 |
| P646 | Freebase ID | /m/0frqm9 |
| P353 | HGNC gene symbol | ATXN7 |
| P354 | HGNC ID | 10560 |
| P593 | HomoloGene ID | 30967 |
| P492 | OMIM ID | 607640 |
| 607640 | ||
| P639 | RefSeq RNA ID | NM_000333 |
| NM_001128149 | ||
| NM_001177387 | ||
| P2892 | UMLS CUI | C1538303 |
| P4196 | cytogenetic location | 3p14.1 | |
| P688 | encodes | Ataxin 7 | Q21172190 |
| P703 | found in taxon | Homo sapiens | Q15978631 |
| P2293 | genetic association | spinocerebellar ataxia type 7 | Q22443706 |
| P684 | ortholog | Atxn7 | Q24402414 |
| atxn7 | Q29761134 | ||
| Atxn7 | Q18299431 |
| Q27594390 | hsa-miR-130b-5p |
| Q27593323 | hsa-miR-17-5p |
| Q27592886 | hsa-miR-181a-5p |
| Q27592884 | hsa-miR-181b-5p |
| Q27593968 | hsa-miR-181c-5p |
| Q27593970 | hsa-miR-181d-5p |
| Q27593105 | hsa-miR-192-5p |
| Q27593328 | hsa-miR-19a-3p |
| Q27593332 | hsa-miR-19b-3p |
| Q27595097 | hsa-miR-204-5p |
| Q27593520 | hsa-miR-211-5p |
| Q27592939 | hsa-miR-3124-3p |
| Q27593394 | hsa-miR-342-3p |
| Q27595262 | hsa-miR-3978 |
| Q27593743 | hsa-miR-423-3p |
| Q27594138 | hsa-miR-4262 |
| Q27594987 | hsa-miR-4287 |
| Q27595341 | hsa-miR-452-3p |
| Q27594659 | hsa-miR-4635 |
| Q27592994 | hsa-miR-4685-3p |
| Q27592929 | hsa-miR-4753-3p |
| Q27595191 | hsa-miR-4768-5p |
| Q27595221 | hsa-miR-502-5p |
| Q27593678 | hsa-miR-5093 |
| Q27594046 | hsa-miR-515-5p |
| Q27594082 | hsa-miR-519d-5p |
| Q27594048 | hsa-miR-519e-5p |
| Q27593958 | hsa-miR-5695 |
| Q27594775 | hsa-miR-6832-3p |
| Q27594782 | hsa-miR-6833-3p |
| Q27595047 | hsa-miR-6845-3p |
| Q27594787 | hsa-miR-6873-3p |
| Q27592847 | hsa-miR-9-5p |
| Q27593334 | hsa-miR-92a-3p |
| Q22443706 | spinocerebellar ataxia type 7 | genetic association | P2293 |
| Q21172190 | Ataxin 7 | encoded by | P702 |
| Tatar language (tt / Q25285) | ATXN7 | wikipedia |
| ATXN7 | wikipedia |
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