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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
CNST - Consortin, Connexin Sorting Protein
Alias:
C1orf71
PPP1R64
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
许多跨膜蛋白被靶向到细胞表面被认为依赖于与适应器机器相互作用的货物受体,该机器在高尔基复合物的远端进行逆向交通。Consortin (CNST)是一种整合膜蛋白,作为间隙连接构建块connexin的结合伙伴,并作为涉及连接蛋白靶向到质膜和从细胞表面回收的TGN受体发挥作用(del Castillo等人,2010年[PubMed 19864490])。[由OMIM,2010年6月提供]
Related ID:
NCBI:163882
ENSEMBL:ENSG00000162852
HGNC:26486
UNIPROT:Q6PJW8
OMIM:613439
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
163882
12
11
102140 bp
79.60
32
--
2
6
CNST Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
MGI
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Status
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Link
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References Literature
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