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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
MCM3AP - Minichromosome Maintenance Complex Component 3 Associated Protein
Alias:
GANP
SAC3
MAP80
PNRIID
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
微染色体维持蛋白3(MCM3)是启动DNA复制所必需的MCM蛋白之一。这个基因编码的蛋白质是一种与MCM3结合的蛋白质。据报道,它具有依赖于磷酸化的DNA-引物酶活性,这种活性在抗原免疫诱导的生发中心中被上调。该蛋白质被证明是一种乙酰转移酶,可以乙酰化MCM3,并在DNA复制中发挥作用。MCM3的核定位信号的突变影响这个蛋白质与MCM3的结合,这表明这个蛋白质也可能促进MCM3的核定位。这个基因在大脑或神经组织中表达。已经在一个患有轻度智力障碍的患者中识别出一种等位基因变异,该变异编码915位的氨基酸赖氨酸,而不是保守的谷氨酸。[RefSeq,2014年1月提供]
Related ID:
NCBI:8888
ENSEMBL:ENSG00000160294
HGNC:6946
UNIPROT:O60318
OMIM:603294
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8888
4
28
51133 bp
218.41
1122
2
3
26
MCM3AP 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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