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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
ACD - ACD Shelterin Complex Subunit And Telomerase Recruitment Factor
Alias:
PIP1
PTOP
TPP1
TINT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种参与端粒功能的蛋白质。这种蛋白质是端粒复合物/保护蛋白中的六种核心蛋白质之一,负责维持端粒长度和保护端粒末端。通过与其他成分的相互作用,这种蛋白质在这个复合物的组装和稳定中扮演关键角色,并调节端粒酶对端粒的访问。已经发现这个基因的多个转录变异体编码不同的异构体。这个基因也被称为TPP1,与染色体11上的无关的TPP1基因不同,后者编码三肽肽酶I。[由RefSeq提供,2008年7月]
Related ID:
NCBI:65057
ENSEMBL:ENSG00000102977
HGNC:25070
UNIPROT:Q96AP0
OMIM:609377
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
65057
3
12
2749 bp
48.97
1014
3
5
23
ACD Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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