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This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
[中文简述(自动翻译):]  这个基因编码,在含有内含子的tRNA(亮氨酸)(CAA)的前体的34位催化胞嘧啶的甲基化到5-甲基胞嘧啶(M5C)一个甲基。这种修改是必要的,以稳定反密码密码子配对并正确翻译的mRNA。另外剪接转录变体编码不同的亚型已经注意到了这个基因。[由RefSeq的,2011年3月提供]
NSUN2基因(以及对应的蛋白质)的细胞分布位置:
NSUN2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | 0.24 | 1 | 3 | CLINVAR_UNIPROT |
Dubowitz syndrome | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Intellectual Disability | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Glycogen Storage Disease | 0.000271442 | 1 | 0 | BeFree |
Microcephaly | 0.000271442 | 1 | 0 | BeFree |
Pfaundler-Hurler Syndrome | 0.000271442 | 1 | 0 | BeFree |
Autosomal recessive hypophosphatemic vitamin D refractory rickets | 0.000271442 | 1 | 0 | BeFree |
Hereditary hemochromatosis | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) | 0.000271442 | 1 | 0 | BeFree |
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