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中文人类
CEP290 - Centrosomal Protein 290
Alias:
CT87
MKS4
POC3
rd16
BBS14
JBTS5
LCA10
NPHP6
SLSN6
3H11Ag
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这个基因编码一个具有13个预测的卷曲螺旋结构域的蛋白质，该区域与SMC染色体分离ATP酶具有同源性，有六个KID基序，三个原肌球蛋白同源结构域和一个ATP/GTP结合位点基序A。该蛋白质定位在中心体和纤毛上，具有N-糖基化，酪氨酸磺酸化，磷酸化，N-肉豆蔻酰化和酰胺化位点。这个基因的突变与Joubert综合征和肾结石病有关，而针对这个蛋白质的抗体的存在与几种癌症有关。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CEP290 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
