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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
SNX3 - Sorting Nexin 3
Alias:
SDP3
Grd19
MCOPS8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码分选神经蛋白家族的成员之一。这个家族的成员包含一个phox(PX)结构域,这是一个磷酸肌醇结合结构域,并参与细胞内运输。这个蛋白不含像大多数家族成员那样的螺旋卷区域。这个蛋白与磷酸肌醇-3-磷酸相互作用,并参与蛋白质运输。这个基因的一个假基因存在于性染色体上。可选的剪接导致多个转录变异体编码不同的异构体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:8724
ENSEMBL:ENSG00000112335
HGNC:11174
UNIPROT:O60493
OMIM:605930
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8724
4
4
49819 bp
18.76
5
1
4
25
SNX3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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