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中文人类
RPGRIP1L - RPGRIP1 Like
Alias:
FTM
MKS5
CORS3
JBTS7
NPHP8
COACH3
PPP1R134
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这个基因编码的蛋白质可以定位到基体-中心体复合物或在纤毛细胞中的初级纤毛和中心体。已发现编码的蛋白质与肾囊肿蛋白4相互作用。这个基因的缺陷是导致Joubert综合征7型（JBTS7）和Meckel综合征5型（MKS5）的原因。[由RefSeq，2016年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RPGRIP1L 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
