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中文人类
RPGR - Retinitis Pigmentosa GTPase Regulator
Alias:
CRD
RP3
COD1
PCDX
RP15
XLRP3
orf15
CORDX1
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这个基因编码一个具有一系列六个RLD(RCC1样结构域)的蛋白质，这些结构域是高保守的鸟苷酸交换因子所特有的。该编码蛋白质位于高尔基体中，并与RPGRIP1相互作用。该蛋白质定位在棒状光感受器的外侧段，对其生存至关重要。这个基因的突变与X连锁性色素变性(XLRP)有关。已经报道了许多可变剪接的转录变异体，它们编码这个基因的不同异构体，但只有一些的全长度性质已经确定。[由RefSeq提供，2008年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RPGR 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
