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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
DNASE1 - Deoxyribonuclease 1
Alias:
DNL1
DRNI
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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DNase家族的一员。这种蛋白质储存在核膜的酶原颗粒中,并通过切割DNA的内切核酸方式进行作用。已经鉴定出至少六种常染色体共显性等位基因,从DNASE1*1到DNASE1*6,并且这个记录中代表了DNASE1*2的序列。这个基因的突变与系统性红斑狼疮(SLE),一种自身免疫性疾病有关。这个蛋白质的重组形式通过水解痰液中的细胞外DNA并降低其粘度,用于治疗囊性纤维化的一种症状。已经观察到了这个基因的替代转录剪接变异体,但尚未进行全面研究。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1773
ENSEMBL:ENSG00000213918
HGNC:2956
UNIPROT:P24855
OMIM:125505
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1773
15
9
53702 bp
31.43
105
4
10
15
DNASE1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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References Literature
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