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中文人类
HPS4 - HPS4 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2
Alias:
LE
BLOC3S2
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这个基因编码一个蛋白质成分，参与溶酶体相关有机体的复合物（BLOC）的生物发生。BLOC复合物对于形成内体-溶酶体有机体如黑色素体和血小板密集颗粒非常重要。这个基因的突变导致Hermansky-Pudlak综合征的4个子类型，这是一种白化病形式。可变剪接导致多个转录变异体。[由RefSeq，2012年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HPS4 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
