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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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人类
MAPT - Microtubule Associated Protein Tau
Alias:
TAU
MSTD
PPND
DDPAC
MAPTL
MTBT1
MTBT2
tau-40
FTDP-17
PPP1R103
Tau-PHF6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码微管相关蛋白tau(MAPT),其转录经历复杂的、受调控的替代剪接,产生几种不同的mRNA种类。MAPT转录本在神经系统中的表达量因神经元成熟阶段和神经元类型的不同而有所差异。MAPT基因突变与几种神经退行性疾病有关,如阿尔茨海默病、皮克病、额颞部痴呆、皮质基底变性以及进行性核上麻痹。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4137
ENSEMBL:ENSG00000186868
HGNC:6893
UNIPROT:P10636
OMIM:157140
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4137
28
13
133781 bp
78.93
517
15
52
86
MAPT 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
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
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