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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
小鼠
Ofd1 - OFD1, centriole and centriolar satellite protein
Alias:
ORF2
Cxorf5
DXGgc7e
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有α-tubulin结合活性和γ-tubulin结合活性。参与几个过程,包括胚胎体形态发生;参与决定左右不对称性的上皮纤毛运动;以及负调控纤维母细胞生长因子受体信号通路,该通路参与神经板前后模式形成。在轴丝组装的上游或内部发挥作用。位于中心粒附属物;中心粒;和纤毛基体。在几个结构中表达,包括消化系统上皮;大脑;生殖系统;感光器;和皮肤。用于研究口面部指综合症1。这个基因的人类同源物涉及约伯氏综合症10;辛普森-戈拉比-贝姆尔综合症2型;口面部指综合症1;视网膜色素变性;和视网膜色素变性23。与人类OFD1(OFD1中心粒和中心粒附属蛋白)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:237222
ENSEMBL:ENSMUSG00000040586
UNIPROT:Q80Z25
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
237222
4
23
52198 bp
117.34
3
15
Ofd1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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IF
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