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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
MVB12B - Multivesicular Body Subunit 12B
Alias:
C9orf28
FAM125B
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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ESCRT-I复合物的组成部分,这是一个异四聚体,负责将泛素化货物的蛋白质从质膜分拣到内体囊泡中。ESCRT-I复合物在HIV出芽和内体蛋白质分拣中起着至关重要的作用。这个和相关蛋白质(MVB12A)的耗竭和过表达会抑制HIV-1感染性并诱导异常的病毒组装缺陷,表明MVB12亚基在调节ESCRT介导的病毒出芽中发挥作用。已发现这个基因有不同的剪接转录变异体,它们编码不同的异构体。[RefSeq,2011年8月提供]
Related ID:
NCBI:89853
ENSEMBL:ENSG00000196814
HGNC:23368
UNIPROT:Q9H7P6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
89853
8
10
180212 bp
35.62
14
--
2
3
MVB12B 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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References Literature
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