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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
HPGD - 15-hydroxyprostaglandin Dehydrogenase
Alias:
PGDH
PGDH1
PHOAR1
15-PGDH
SDR36C1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码短链非金属酶乙醇脱氢酶家族的一员。编码的酶负责前列腺素的代谢,前列腺素在各种生理和细胞过程中发挥作用,如炎症。这个基因的突变导致原发性常染色体隐性肥厚性骨关节病和颅骨关节病。已经发现这个基因有多个转录变异体,编码不同的异构体。[RefSeq,2009年3月提供]
Related ID:
NCBI:3248
ENSEMBL:ENSG00000164120
HGNC:5154
UNIPROT:P15428
OMIM:601688
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3248
7
7
32719 bp
28.98
157
3
7
22
HPGD 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
Reset
Acting
Regulation
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Residues
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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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