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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
CRBN - Cereblon
Alias:
MRT2
MRT2A
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与Lon蛋白酶家族相关的蛋白质。在啮齿动物和其他哺乳动物中,这个基因产物存在于细胞质中,与钙通道膜蛋白定位在一起,被认为在大脑发育中起作用。这个基因的突变与常染色体隐性非综合征性认知障碍有关。已经发现这个基因有多个编码不同异型的转录变异体。[RefSeq,2010年3月提供]
Related ID:
NCBI:51185
ENSEMBL:ENSG00000113851
HGNC:30185
UNIPROT:Q96SW2
OMIM:609262
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51185
6
11
30085 bp
50.55
69
2
13
17
CRBN 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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