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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
Pkhd1 - polycystic kidney and hepatic disease 1
Alias:
FPC
Tigm1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与多个过程,包括有丝分裂纺锤体定位的建立;负调控上皮细胞凋亡过程;以及正调控上皮细胞增殖。在多个过程中处于上游或内部,包括上皮管的分支形态发生;细胞间连接组织;和纤毛组装。位于几个细胞组件中,包括9+0非运动纤毛;顶质膜;和细胞外外体泡。在几个结构中表达,包括肾上腺皮质;肠道;肾单位;神经管;和尿嵴。用于研究常染色体隐性多囊肾疾病和多囊肾疾病4。该基因的人类同源物涉及常染色体隐性多囊肾疾病和多囊肾疾病4。与人类PKHD1(含纤毛IPT结构域的PKHD1/Polyductin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:241035
ENSEMBL:ENSMUSG00000043760
UNIPROT:E9PZ36
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
241035
4
67
560304 bp
444.88
17
17
Pkhd1 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
Tissue-specific RNA expression
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Type
Name
MGI
Strain of Origin
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References Literature
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IF
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