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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
PGD - Phosphogluconate Dehydrogenase
Alias:
6PGD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
6-磷酸葡萄糖酸脱氢酶是磷酸戊糖途径中的第二个脱氢酶。这种酶的缺乏通常无症状,这种疾病的遗传方式是常染色体显性遗传。由于6-磷酸葡萄糖酸脱氢酶和6-磷酸葡萄糖酸内酯酶的联合缺乏导致溶血,这表明这两种酶病的协同作用。已经发现这种基因有几种转录变体,编码不同的等位基因。[由RefSeq提供,2015年1月]
Related ID:
NCBI:5226
ENSEMBL:ENSG00000142657
HGNC:8891
UNIPROT:P52209
OMIM:172200
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5226
3
13
21448 bp
53.14
17
--
6
7
PGD 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
Detail
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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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