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Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
[中文简述(自动翻译):]  福选择性剪接转录变异体的编码四种不同的亚型已经发现这个核基因。所有亚型含有丰富的亮氨酸重复。这些同种型中的三个是线粒体蛋白,其中之一缺少靶肽,所以不位于线粒体。唐氏综合症(DS)的脑,其可以在DS中的患者代表的线粒体功能障碍该基因下调。 [由RefSeq的,2012年9月提供]
C21orf2基因(以及对应的蛋白质)的细胞分布位置:
C21orf2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Down Syndrome | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.00272435 | 1 | 0 | LHGDN |
Friedreich Ataxia | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
Polyglandular Type I Autoimmune Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Myopathies | 0.000271442 | 1 | 0 | BeFree |
Jeune thoracic dystrophy | 0.000271442 | 1 | 0 | BeFree |
Nonsyndromic Deafness | 0.000271442 | 1 | 0 | BeFree |
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