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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
SAT1 - Spermidine/spermine N1-acetyltransferase 1
Alias:
SAT
DC21
KFSD
SSAT
KFSDX
SSAT-1
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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乙酰转移酶家族,是多胺代谢途径中的一种限速酶。它催化精胺和亚精胺的乙酰化,并参与调节细胞内多胺的浓度以及将它们运输出细胞。这个基因的缺陷与秃发性毛囊角化症(KFSD)有关。已经发现了这个基因的可变剪接转录本。[RefSeq,2009年9月提供]
Related ID:
NCBI:6303
ENSEMBL:ENSG00000130066
HGNC:10540
UNIPROT:P21673
OMIM:313020
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6303
1
6
3038 bp
20.02
2
2
6
12
SAT1 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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