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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
EXOC7 - Exocyst Complex Component 7
Alias:
BLOM4
EX070
EXO70
EXOC1
2-5-3p
Exo70p
NEDSEBA
YJL085W
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是分泌复合体的一部分。分泌复合体在将高尔基体后的小泡靶向质膜方面在囊泡运输和分泌途径中起着关键作用。编码的蛋白质是分泌复合体组装和复合体与质膜对接所必需的。该基因的编码蛋白质也可能通过与pre-mRNA加工因子19的相互作用在pre-mRNA剪接中发挥作用。已经观察到了这个基因的替代剪接转录变异体,它们编码多种异构体。这个基因的假基因位于染色体4的长臂上。[RefSeq提供,2011年11月]
Related ID:
NCBI:23265
ENSEMBL:ENSG00000182473
HGNC:23214
UNIPROT:Q9UPT5
OMIM:608163
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23265
13
19
22772 bp
83.38
58
1
3
12
EXOC7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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