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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
SLC9A9 - Solute Carrier Family 9 Member A9
Alias:
NHE9
AUTS16
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个钠/质子交换蛋白,属于溶质载体9蛋白家族成员。编码的蛋白质定位在晚回收内体中,可能在维持阳离子内稳态中扮演重要角色。这个基因的突变与自闭症易感性16和注意力缺陷/多动障碍有关。[RefSeq,2012年3月提供]
Related ID:
NCBI:285195
ENSEMBL:ENSG00000181804
HGNC:20653
UNIPROT:Q8IVB4
OMIM:608396
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
285195
5
16
583247 bp
72.56
67
2
8
13
SLC9A9 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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