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中文人类
VPS33B - VPS33B Late Endosome And Lysosome Associated
Alias:
KDIDAR
PFIC12
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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。在酵母中的遗传研究已经发现了40多个与囊泡运输到液泡有关的VPS基因。这个基因是Sec-1结构域家族的成员，编码大鼠Vps33b的直向同源物，与酵母C类Vps33蛋白质相似。哺乳动物的C类液泡蛋白质主要与晚内体/溶酶体相关，与它们的酵母对应物一样，可能调节内体/溶酶体途径中的囊泡运输步骤。这个基因的突变与关节僵硬-肾功能不全-胆汁淤积综合征有关。可变剪接导致多个转录变异体。[RefSeq，2014年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
VPS33B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
