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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
GEM - GTP Binding Protein Overexpressed In Skeletal Muscle
Alias:
KIR
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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属于GTP结合蛋白质的RAD/GEM家族。它与质膜的内表面相关联,并可以作为受体介导的信号传导中的调节蛋白质。在这个位置发生替代剪接,并已经发现了两种编码相同蛋白质的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2669
ENSEMBL:ENSG00000164949
HGNC:4234
UNIPROT:P55040
OMIM:600164
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2669
4
5
13067 bp
33.95
10
--
6
6
GEM 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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* This data comes from NCBI.
Gene Expression
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References Literature
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