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中文人类
AP3D1 - Adaptor Related Protein Complex 3 Subunit Delta 1
Alias:
ADTD
HPS10
hBLVR
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这个基因编码的蛋白质是AP3适配器样复合物的亚基，该复合物不是与氯素相关，而是与高尔基区域以及更外围的结构相关。AP-3复合物促进高尔基膜上的囊泡萌发，并可能直接参与向溶酶体的传递。这个亚基参与色素颗粒、可能的血小板密集颗粒和神经递质囊泡的细胞内生物发生和传递。这个基因的缺陷是Hermansky-Pudlak综合征新类型的原因。[RefSeq，2017年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AP3D1 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
