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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
PREPL - Prolyl Endopeptidase Like
Alias:
CMS22
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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属于丝氨酸肽酶中的脯氨酸低聚肽酶亚家族。这个基因的突变与假性肌张力-胱氨酸尿综合征,也被称为2p21缺失综合征有关。这个基因有几个可变剪接转录本,可以编码相同或不同的异构体。[由RefSeq,2010年1月提供]
Related ID:
NCBI:9581
ENSEMBL:ENSG00000138078
HGNC:30228
UNIPROT:Q4J6C6
OMIM:609557
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9581
17
14
44256 bp
83.93
639
5
7
15
PREPL 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
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CAS Number
Status
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Link
No data available
References Literature
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