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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
RSC1A1 - Regulator Of Solute Carriers 1
Alias:
RS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个内含子缺失的基因编码的蛋白质抑制了溶质载体家族5(钠/葡萄糖共转运体)成员1基因(SLC5A1)的表达,并下调了SLC5A1蛋白的外排。编码的蛋白质有时会在跨高尔基体网络上发现,有时会定位到细胞核,这取决于细胞周期阶段。这种蛋白质还抑制了溶质载体家族22(有机阳离子转运体)成员2(SLC22A2)的表达。[由RefSeq提供,2015年12月]
Related ID:
NCBI:6248
ENSEMBL:ENSG00000215695
HGNC:10458
UNIPROT:Q92681
OMIM:601966
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6248
1
1
2321 bp
66.79
26
--
1
7
RSC1A1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Acting
Regulation
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Type
Name
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References Literature
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No Data Found!
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