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This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
[中文简述(自动翻译):]  该基因编码的人类外来体的非催化组分,与起着众多RNA加工和退化活动角色3‘-5‘核糖核酸外切酶活性的复合物。该基因相关的假都在19号染色体和21的编码已被描述不同的亚型选择性剪接转录变异体中。 [由RefSeq的,2012年6月提供]
EXOSC3基因(以及对应的蛋白质)的细胞分布位置:
EXOSC3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Pontocerebellar Hypoplasia Type 1 | 0.241628651 | 6 | 3 | BeFree_CTD_human_ORPHANET |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | 0.24 | 1 | 8 | CLINVAR_UNIPROT |
Congenital pontocerebellar hypoplasia | 0.000814326 | 3 | 2 | BeFree |
Pontoneocerebellar hypoplasia | 0.000814326 | 3 | 2 | BeFree |
Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Meningioma | 0.000271442 | 1 | 0 | BeFree |
Monosomy | 0.000271442 | 1 | 0 | BeFree |
Muscle hypotonia | 0.000271442 | 1 | 1 | BeFree |
Mycoses | 0.000271442 | 1 | 0 | BeFree |
Paracoccidioidomycosis | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Motor Neuron Disease | 0.000271442 | 1 | 0 | BeFree |
Cerebellar Hypoplasia | 0.000271442 | 1 | 0 | BeFree |
Complicated hereditary spastic paraplegia | 0.000271442 | 1 | 0 | BeFree |
Cerebellar atrophy | 0.000271442 | 1 | 0 | BeFree |
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