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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
RTN4IP1 - Reticulon 4 Interacting Protein 1
Alias:
NIMP
OPA10
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种与网状蛋白4相互作用的线粒体蛋白,网状蛋白4是脊髓损伤后再生的高效抑制剂。这种相互作用可能对网状蛋白诱导的神经突起生长抑制非常重要。这个基因的突变可能导致10型视神经萎缩,伴有或不伴有共济失调、认知障碍和癫痫发作。在染色体12上有一个这个基因的假基因。可变剪接导致多个转录变异体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:84816
ENSEMBL:ENSG00000130347
HGNC:18647
UNIPROT:Q8WWV3
OMIM:610502
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84816
4
9
59721 bp
43.59
284
2
5
7
RTN4IP1 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
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Cell-specific RNA expression
Organ
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Interactions
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Acting
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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