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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
VPS11 - VPS11 Core Subunit Of CORVET And HOPS Complexes
Alias:
END1
PEP5
HLD12
RNF108
hVPS11
HLD12
DYT32
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
内质网介导的蛋白质分类在将细胞内分子分隔成不同的细胞器中起着重要作用。酵母的遗传研究表明,有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C类Vps11蛋白的人同源物。哺乳动物的C类Vps蛋白主要与晚内体/溶酶体相关,与它们的酵母对应物一样,可以调节内体/溶酶体途径中囊泡运输的步骤。可变剪接导致多个转录变异体。[RefSeq,2014年2月提供]
Related ID:
NCBI:55823
ENSEMBL:ENSG00000160695
HGNC:14583
UNIPROT:Q9H270
OMIM:608549
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55823
7
16
14155 bp
107.84
191
2
3
24
VPS11 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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