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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
PADI2 - Peptidyl Arginine Deiminase 2
Alias:
PAD2
PDI2
PAD-H19
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了一种精氨酸脱羧酶家族的酶,这种酶在钙离子存在的情况下催化蛋白质的后翻译脱氨作用,将精氨酸残基转化为瓜氨酸。家族成员具有不同的底物特异性和组织特异性表达模式。II型酶是最广泛表达的家族成员。这种酶已知的底物包括中枢神经系统的髓磷脂碱性蛋白和骨骼肌和巨噬细胞的中间丝蛋白。这种酶被认为在神经退行性人类疾病的发病和进展中发挥作用,包括阿尔茨海默病和多发性硬化症,并且也被认为在青光眼的发病机制中发挥作用。这个基因存在于四个其他同源基因的簇中。[由RefSeq提供,2008年7月]
Related ID:
NCBI:11240
ENSEMBL:ENSG00000117115
HGNC:18341
UNIPROT:Q9Y2J8
OMIM:607935
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11240
3
16
52691 bp
75.56
40
--
8
7
PADI2 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
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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
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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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Year
IF
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