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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
TBC1D32 - TBC1 Domain Family Member 32
Alias:
BROMI
C6orf170
C6orf171
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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TBC结构域的蛋白质。在小鼠和斑马鱼中类似蛋白质的研究表明,编码的蛋白质参与sonic hedgehog信号传导,并与细胞周期相关激酶相互作用并稳定其活性。可变剪接产生多种转录子变异体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:221322
ENSEMBL:ENSG00000146350
HGNC:21485
UNIPROT:Q96NH3
OMIM:615867
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
221322
23
32
255236 bp
144.76
157
1
9
3
TBC1D32 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
Reset
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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