ATXN8(ataxin 8)
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Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]
[中文简述(自动翻译):] 脊髓小脑性共济失调-8（SCA8; {608768}）是由上13q21染色体（见{603680.0001}和{613289.0001}）一CTG / CAG三核苷酸重复扩展神经变性病症。两个基因跨越CTG / CAG重复和在相反的方向上表示为：ATXN8，这在CAG方向编码几乎纯的多谷氨酰胺扩展蛋白，和ATXN8OS（{603680}），其中，当转录时，产生一个非编码CUG膨胀性RNA（ {2：莫斯里等，2006}。）[由OMIM，2010年3月提供的]
基因本体信息
ATXN8基因（以及对应的蛋白质）的细胞分布位置：
- 溶酶体
- 内涵体
- 细胞核
- 细胞质
- 液泡
- 细胞膜
- 细胞外基质
- 内质网
- 线粒体
- 高尔基体
- 细胞骨架
ATXN8基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| SPINOCEREBELLAR ATAXIA 8 | 0.36 | 0 | 0 | CLINVAR_CTD_human_ORPHANET |
| Machado-Joseph Disease | 0.005428837 | 20 | 2 | BeFree |
| Ataxia, Spinocerebellar | 0.003724241 | 5 | 0 | BeFree_GAD |
| Alzheimer's Disease | 0.002638474 | 1 | 0 | BeFree_GAD |
| Parkinsonian Disorders | 0.002638474 | 1 | 0 | BeFree_GAD |
| CNS disorder | 0.002367032 | 1 | 0 | GAD |
| Cerebellar Ataxia | 0.002367032 | 1 | 0 | GAD |
| Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
| Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
| Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
| Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
| Complicated hereditary spastic paraplegia | 0.000271442 | 1 | 0 | BeFree |
| Terminal illness | 0.000271442 | 1 | 0 | BeFree |
| FRAGILE X TREMOR/ATAXIA SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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