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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
PPIB - Peptidylprolyl Isomerase B
Alias:
OI9
CYPB
SCYLP
CYP-S1
HEL-S-39
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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种环孢素结合蛋白,主要位于内质网中。它与分泌途径相关并在生物液中释放。这个蛋白质可以结合来自T-和B-淋巴细胞衍生的细胞,并可能调节环孢素A介导的免疫抑制。已经在这个蛋白质中鉴定出变异,这些变异导致了成骨不全的隐性形式。[由RefSeq,2009年10月提供]
Related ID:
NCBI:5479
ENSEMBL:ENSG00000166794
HGNC:9255
UNIPROT:P23284
OMIM:123841
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5479
1
5
7206 bp
23.74
133
5
6
20
PPIB 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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