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中文人类
CEP41 - Centrosomal Protein 41
Alias:
JBTS15
TSGA14
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这个基因编码一个预测具有两个卷曲螺旋结构域和一个Rhodanese结构域的核仁中心和微管结合蛋白。在人视网膜色素上皮细胞中，该蛋白定位到核仁和中枢管上。这个基因的突变与Joubert综合症15有关，这是一种常染色体隐性遗传的纤毛病和神经系统疾病。可变剪接导致多个转录变异体。[RefSeq，2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CEP41 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
