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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
PRNP - Prion Protein
Alias:
CJD
GSS
PrP
ASCR
KURU
PRIP
PrPc
CD230
AltPrP
p27-30
PrP27-30
PrP33-35C
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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一个倾向于聚集成棒状结构的膜糖基磷脂酰肌醇锚定糖蛋白。编码的蛋白质包含一个高度不稳定的五重串联八肽重复区域。这个基因位于染色体20上,位于一个编码与这个基因编码的蛋白质在生物化学和结构上相似的蛋白质的基因约20kbp上游。重复区域的突变以及这个基因的其他地方的突变与克雅病、致命性家族性失眠症、Gerstmann-Straussler病、亨廷顿病样1和库鲁病有关。已经发现这个基因有一个重叠的开放阅读框,编码一个较小的、结构上无关的蛋白质,AltPrp。可变剪接产生了多种转录变异体。[RefSeq,2014年11月提供]
Related ID:
NCBI:5621
ENSEMBL:ENSG00000171867
HGNC:9449
UNIPROT:F7VJQ1
OMIM:176640
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5621
6
2
15133 bp
27.66
157
10
37
65
PRNP 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)
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* This data comes from NCBI.
Gene Expression
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Type
Name
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Name
CAS Number
Status
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Link
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References Literature
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Journal
Year
IF
No Data Found!
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