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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
UNC80 - Unc-80 Homolog, NALCN Channel Complex Subunit
Alias:
UNC-80
C2orf21
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是电压依赖性“泄漏”离子通道复合物的组成部分,在其中执行基本功能,如作为两个其他组件(非选择性钠泄漏通道和 UNC79)之间的桥梁,并作为Src激酶的支架。泄漏通道在神经元中建立和维持静息膜电位中起着重要作用。这个基因的突变与先天性婴儿脑病、智力障碍和生长问题有关。[RefSeq,2016年8月提供]
Related ID:
NCBI:285175
ENSEMBL:ENSG00000144406
HGNC:26582
UNIPROT:Q8N2C7
OMIM:612636
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
285175
3
65
227465 bp
363.39
1786
2
5
9
UNC80 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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