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中文人类
VHL - Von Hippel-Lindau Tumor Suppressor
Alias:
RCA1
VHL1
pVHL
HRCA1
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这个基因编码一个泛素化复合物的成分。编码的蛋白质参与缺氧诱导因子(HIF)的泛素化和降解，HIF是一种转录因子，在通过氧气调节基因表达方面发挥核心作用。除了与氧气相关的基因表达外，该蛋白质在许多其他细胞过程中发挥作用，包括纤毛形成、细胞因子信号传导、衰老调控和细胞外基质的形成。这个基因的变体与von Hippel-Lindau综合症、嗜铬细胞瘤、红细胞过多、肾细胞癌和小脑血管母细胞瘤有关。[由RefSeq，2022年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
VHL 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
