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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
CEP55 - Centrosomal Protein 55
Alias:
CT111
MARCH
URCC6
C10orf3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有相同的蛋白质结合活性。参与颅骨系统发育;蛋白质定位建立;和中体细胞分裂。位于 Flemming 体;中心粒卫星;和质膜上。与多核神经元、无脑积水、肾发育不良、小脑发育不全和脑积水有关。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:55165
ENSEMBL:ENSG00000138180
HGNC:1161
UNIPROT:Q53EZ4
OMIM:610000
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55165
8
9
32481 bp
54.18
66
1
6
22
CEP55 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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