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中文人类
SHROOM2 - Shroom Family Member 2
Alias:
APXL
HSAPXL
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这个基因代表Xenopus laevis顶点蛋白(APX)基因的人类同源物，与amiloride敏感的钠通道活性有关。它在内皮细胞中表达，促进内皮细胞内收缩性网络的形成。这个基因的缺失导致内皮芽生、迁移和血管生成的增加。这个基因在视网膜中高表达，是眼白化病1型综合征的强候选基因。已经发现了这个基因的可变剪接转录变异体。[RefSeq，2016年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SHROOM2 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
