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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
TMEM231 - Transmembrane Protein 231
Alias:
MKS11
JBTS20
ALYE870
PRO1886
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种跨膜蛋白,是B9复合物的组成部分,参与纤毛与质膜之间扩散屏障的形成。这个基因的突变导致尤贝特综合征(JBTS)。已发现这个基因有多个可变剪接转录变异体。[RefSeq,2013年1月提供]
Related ID:
NCBI:79583
ENSEMBL:ENSG00000205084
HGNC:37234
UNIPROT:Q9H6L2
OMIM:614949
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79583
2
7
19546 bp
36.06
382
7
1
8
TMEM231 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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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