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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
PCM1 - Pericentriolar Material 1
Alias:
PTC4
RET/PCM-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是中心粒卫星成分的组成部分,中心粒卫星是围绕中心粒分布的电子密集颗粒。抑制研究表明,这个蛋白质对于几个中心粒蛋白质的正确定位以及将微管锚定到中心粒是必不可少的。涉及这个基因的染色体异常与乳头状甲状腺癌和各种血液恶性肿瘤有关,包括不典型慢性髓性白血病和T细胞淋巴瘤。已经发现这个基因有不同的转录变异体,编码不同的异构体。[RefSeq,2015年10月提供]
Related ID:
NCBI:5108
ENSEMBL:ENSG00000078674
HGNC:8727
UNIPROT:Q15154
OMIM:600299
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5108
32
39
106961 bp
228.56
152
1
8
47
PCM1 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
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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