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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TERT - Telomerase Reverse Transcriptase
Alias:
TP2
TRT
CMM9
EST2
TCS1
hTRT
DKCA2
DKCB4
hEST2
PFBMFT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
端粒酶是一种通过添加端粒重复序列TTAGGG来维持端粒末端的核糖核蛋白聚合酶。该酶由具有反转录活性的蛋白质成分(由这个基因编码)和作为端粒重复序列模板的RNA成分组成。端粒酶表达在细胞衰老中起作用,因为它在出生后体细胞中通常受到抑制,导致端粒逐渐缩短。体细胞中端粒酶表达的失调节可能涉及癌发生。研究表明,小鼠中的端粒酶也参与染色体修复,因为端粒重复序列的新合成可能发生在双链断裂处。已经识别了编码不同端粒酶反转录酶异型的可变剪接变体;一些变体的全长序列尚未确定。认为该位点的可变剪接是端粒酶活性的一种调节机制。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7015
ENSEMBL:ENSG00000164362
HGNC:11730
UNIPROT:O14746
OMIM:187270
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7015
2
16
41902 bp
127.00
2643
21
16
58
TERT Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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