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中文人类
VPS13B - Vacuolar Protein Sorting 13 Homolog B
Alias:
CHS1
COH1
BLTP5B
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这个基因编码一个潜在的跨膜蛋白，可能参与细胞内囊泡介导的蛋白质运输和分类。这个蛋白可能在眼睛、造血系统和中枢神经系统的发展和功能中发挥作用。这个基因的突变与科恩综合症有关。已经在这个基因中识别出多种编码不同异型的多剪接变异体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
VPS13B 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
