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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
PYCR1 - Pyrroline-5-carboxylate Reductase 1
Alias:
P5C
P5CR
PRO3
PYCR
PIG45
PP222
ARCL2B
ARCL3B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种酶,该酶催化NAD(P)H依赖的吡咯-5-羧酸酯转化为脯氨酸。这种酶也可能在某些细胞类型中起到生成NADP(+)的生理作用。该蛋白质形成一种同源聚合物,并定位到线粒体中。可选的剪接导致多个转录变异体。[RefSeq,2013年8月提供]
Related ID:
NCBI:5831
ENSEMBL:ENSG00000183010
HGNC:9721
UNIPROT:P32322
OMIM:179035
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5831
13
7
4910 bp
33.36
253
5
6
15
PYCR1 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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