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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
KCTD17 - Potassium Channel Tetramerization Domain Containing 17
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于保守的钾通道四聚结构域(KCTD)含有蛋白质家族的蛋白质。编码的蛋白质在纤毛形成中作为cullin3基泛素连接酶E3配体的底物接头发挥作用,并通过多泛素化使角质蛋白结合蛋白trichoplein降解。这个基因的突变与常染色体显性肌阵挛性肌张力障碍26有关。[RefSeq提供,2016年11月]
Related ID:
NCBI:79734
ENSEMBL:ENSG00000100379
HGNC:25705
UNIPROT:Q8N5Z5
OMIM:616386
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79734
13
9
11649 bp
34.89
120
2
4
6
KCTD17 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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