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中文人类
AP3M1 - Adaptor Related Protein Complex 3 Subunit Mu 1
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这个基因编码的蛋白质是AP-3的中亚基，AP-3是一个与高尔基区域以及更外围的细胞内结构相关的适配器相关蛋白复合体。AP-3促进高尔基膜上的囊泡芽生，并可能直接在向内质网/溶酶体系统的蛋白质分类中发挥作用。AP-3是一个异四聚体蛋白质复合体，由两个大亚基（delta和beta3）、一个中亚基（mu3）和一个小亚基（sigma 3）组成。AP-3的一个大亚基的突变与Hermansky-Pudlak综合症有关，这是一种以缺陷性溶酶体相关细胞器为特征的遗传性疾病。这个基因的可变剪接导致多个转录变异体。[RefSeq，2016年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AP3M1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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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
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Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
