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中文人类
OPHN1 - Oligophrenin 1
Alias:
OPN1
MRX60
MRXSBL
ARHGAP41
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这个基因编码一种Rho-GTP酶激活蛋白，促进Rho亚家族成员的GTP水解。Rho蛋白是细胞内信号转导的重要介质，影响细胞迁移和细胞形态发生。这个基因的突变导致与OPHN1相关的X连锁认知残疾，伴有小脑发育不全和独特面部畸形。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
OPHN1 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
