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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
TRPM7 - Transient Receptor Potential Cation Channel Subfamily M Member 7
Alias:
CHAK
CHAK1
ALSPDC
LTRPC7
LTrpC-7
TRP-PLIK
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于瞬时受体电位家族离子通道的melastatin亚家族。这个基因编码的蛋白质既是离子通道,也是丝氨酸/苏氨酸蛋白激酶。激酶活性对离子通道功能是必不可少的,其作用是增加细胞内钙离子水平,帮助调节镁离子内稳态。编码的蛋白质参与细胞骨架组织、细胞粘附、细胞迁移和器官发生。这个基因的缺陷是关岛肌萎缩侧索硬化-帕金森病/痴呆综合症的原因。这个基因可能与心脏功能缺陷有关。[RefSeq,2017年8月提供]
Related ID:
NCBI:54822
ENSEMBL:ENSG00000092439
HGNC:17994
UNIPROT:Q96QT4
OMIM:605692
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54822
2
39
129640 bp
212.70
101
3
15
17
TRPM7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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No Data Found!
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