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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
小鼠
Dkc1 - dyskeratosis congenita 1, dyskerin
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现盒H/ACA小核糖核酸结合活性;假尿苷酸合成酶活性;以及端粒酶RNA结合活性。预测能够对端粒酶活性做出贡献。在ncRNA代谢过程和DNA生物合成过程的正向调节中起到上游或内部作用。位于Cajal体和高核仁。在包括大脑;上皮;泌尿系统;皮肤;和表面外胚层在内的几个结构中表达。用于研究先天性角质素病。这个基因的人类同源物涉及X连锁先天性角质素病;再生障碍性贫血;和先天性角质素病。与人类DKC1(假尿苷酸合成酶1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:245474
ENSEMBL:ENSMUSG00000031403
UNIPROT:Q9ESX5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
245474
5
15
13923 bp
57.40
11
11
Dkc1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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