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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
TTC4 - Tetratricopeptide Repeat Domain 4
Alias:
CNS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有四肽重复序列(TPR)的蛋白质,通常调节蛋白质与蛋白质之间的相互作用和分子伴侣活性。编码的蛋白质与热休克蛋白70和90相互作用。可变剪接导致多个转录变异体。自然发生的读穿转录从上游基因MROH(大师热类似重复家族成员7)发生到这个基因。[由RefSeq,2014年4月提供]
Related ID:
NCBI:7268
ENSEMBL:ENSG00000243725
HGNC:12394
UNIPROT:O95801
OMIM:606753
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7268
2
10
26797 bp
44.68
9
--
3
10
TTC4 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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