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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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人类
P4HB - Prolyl 4-hydroxylase Subunit Beta
Alias:
DSI
GIT
PDI
PHDB
PDIA1
PO4DB
PO4HB
PROHB
CLCRP1
ERBA2L
P4Hbeta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
该基因编码脯氨酰4-羟化酶的β亚基,这是一种高度丰富的多功能酶,属于二硫键异构酶家族。当以由两个α和两个β亚基组成的四聚体存在时,该酶参与前胶原中脯氨酰残基的羟化。该酶也是一种含有两个硫氧还蛋白结构域的二硫键异构酶,催化二硫键的形成、断裂和重排。其他已知功能包括其作为分子伴侣的能力,以浓度依赖的方式抑制错折叠蛋白质的聚集,其结合甲状腺激素的能力,其在S-亚硝基硫醇结合的一氧化氮流入和流出的作用,以及作为微粒体甘油三酯转移蛋白复合物的亚基的功能。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5034
ENSEMBL:ENSG00000185624
HGNC:8548
UNIPROT:P07237
OMIM:176790
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5034
1
11
17370 bp
57.12
215
3
7
39
P4HB 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
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Alphabetical
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
No data available
References Literature
Title
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Journal
Year
IF
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