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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
VPS41 - VPS41 Subunit Of HOPS Complex
Alias:
HVPS41
HVSP41
SCAR29
hVps41p
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞内分子通过囊泡介导的蛋白质分类被分为不同的细胞器,这在酵母的遗传研究中得到了证实。已经发现了40多个与囊泡运输到液泡相关的VPS基因。这个基因编码酵母Vps41蛋白的人类正链,该蛋白也在果蝇、番茄和拟南芥中保守。在酵母和人类中的表达研究表明,这个蛋白可能参与高尔基体来源的运输囊泡的形成和融合。这个基因有几个转录变异体,编码不同的异构体,但并非所有异构体的完整性质尚不清楚。[由RefSeq,2008年7月提供]
Related ID:
NCBI:27072
ENSEMBL:ENSG00000006715
HGNC:12713
UNIPROT:P49754
OMIM:605485
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27072
3
29
186218 bp
98.57
92
2
4
22
VPS41 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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Transcript
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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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