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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
CHMP1B - Charged Multivesicular Body Protein 1B
Alias:
Vps46B
C10orf2
C18orf2
CHMP1.5
Vps46-2
C18-ORF2
hVps46-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
CHMP1B属于染色质修饰蛋白/带电的多囊泡体蛋白(CHMP)家族。这些蛋白质是ESCRT-III(内质网分选复合物所需运输III)复合物的组成部分,该复合物参与表面受体蛋白的降解和内吞多囊泡体的形成(MVBs)。一些CHMP蛋白具有核质/囊泡分布,其中一种CHMP,CHMP1A(MIM 164010)是MVBs形成和细胞周期进程调控所必需的(Tsang等人,2006年[PubMed 16730941])。[由OMIM于2008年3月提供]
Related ID:
NCBI:57132
ENSEMBL:ENSG00000255112
HGNC:24287
UNIPROT:Q7LBR1
OMIM:606486
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
57132
1
1
3032 bp
22.11
11
--
3
16
CHMP1B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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