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The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
[中文简述(自动翻译):]  由该基因编码的蛋白质是一个CCA-加入酶属于tRNA的核苷酸基转移酶/多聚(A)聚合酶家族。通过催化加成的保守核苷酸三联CCA至tRNA分子的3‘末端此必需酶的功能。突变在该基因的结果与B细胞免疫缺陷,周期性发热,和发育迟缓铁粒幼细胞贫血。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年12月提供]
TRNT1基因(以及对应的蛋白质)的细胞分布位置:
TRNT1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Hereditary sideroblastic anemia | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
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