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中文人类
HPS3 - HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1
Alias:
SUTAL
BLOC2S1
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这个基因编码一个含有潜在的内吞体结合基序、保守的二亮氨酸信号和基于酪氨酸的分类信号的蛋白质，用于靶向溶酶体谱系的囊泡。编码的蛋白质可能在与黑色素体、血小板密集颗粒和溶酶体相关的细胞器生物发生中发挥作用。这个基因的突变与赫曼斯基-帕杜拉克综合症3型有关。[RefSeq,2015年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HPS3 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
