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中文人类
CEP104 - Centrosomal Protein 104
Alias:
GlyBP
MRT77
ROC22
JBTS25
CFAP256
KIAA0562
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这个基因编码一个中心体蛋白，该蛋白对于纤毛生成和纤毛尖端结构完整性是必需的。哺乳动物蛋白包含三个氨基端疏水域、两个糖基化位点、四个富含半胱氨酸的模体以及两个与谷氨酸受体离子型、NMDA1蛋白同源的区域。在纤毛生成过程中，编码的蛋白从中心体的远端尖端转移到正在延长的纤毛尖端。在人类视网膜色素细胞中敲低该蛋白会导致纤毛生成严重缺陷，纤毛尖端出现结构畸形。该基因的等位变异与Joubert综合征有关，该综合征的特点是中后脑和小脑的特异性畸形、眼动失用、呼吸不规则、发育延迟和共济失调。[由RefSeq提供，2016年2月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CEP104 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
