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中文人类
AP3B1 - Adaptor Related Protein Complex 3 Subunit Beta 1
Alias:
PE
HPS
HPS2
ADTB3
ADTB3A
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这个基因编码的蛋白质可能在与黑色素体、血小板致密颗粒和溶酶体相关的细胞器生物发生中发挥作用。编码的蛋白质是异四聚体AP-3蛋白质复合物的一部分，该复合物与支架蛋白clathrin相互作用。这个基因的突变与Hermansky-Pudlak综合症2型有关。已经在这个基因中发现了两个编码不同异型的转录变异体。[由RefSeq，2012年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AP3B1 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
