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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
SLC16A1 - Solute Carrier Family 16 Member 1
Alias:
MCT
HHF7
MCT1
MCT1D
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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是一种质子连接的单羧酸转运蛋白,能够催化许多单羧酸,如乳酸和丙酮酸,穿过质膜。这个基因的突变与红细胞乳酸转运蛋白缺陷有关。已经发现了这个基因的可变剪接转录变异体。[由RefSeq,2009年10月提供]
Related ID:
NCBI:6566
ENSEMBL:ENSG00000155380
HGNC:10922
UNIPROT:P53985
OMIM:600682
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6566
3
5
44350 bp
53.94
217
3
8
29
SLC16A1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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