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中文人类
BLOC1S2 - Biogenesis Of Lysosomal Organelles Complex 1 Subunit 2
Alias:
CEAP
BLOS2
BORCS2
CEAP11
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这个基因编码一个具有多种功能的蛋白质。已发现编码的蛋白质与中心体相关联，显示与γ-tubulin共定位，并且还发现是BLOC-1复合物中的蛋白质之一，该复合物在形成溶酶体相关器官的过程中发挥作用。这个基因的一个假基因位于X染色体上。可选的剪接导致多个转录变异体。[RefSeq，2012年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BLOC1S2 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
