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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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HSD17B4 - Hydroxysteroid 17-beta Dehydrogenase 4
Alias:
DBP
MFE-2
MFP-2
MPF-2
PRLTS1
SDR8C1
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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涉及脂肪酸过氧化物酶体β氧化途径的双功能酶。它还可以作为催化剂,从直链和2-甲基支链脂肪酸中形成3-酮酰辅酶A中间体。影响过氧化物酶体脂肪酸β氧化活性的这个基因的缺陷是D-双功能蛋白缺乏症(DBPD)的原因。这个基因的一个明显的假基因存在于染色体8上。已经发现这个基因的多个可变剪接转录变异体,编码不同的异构体。[RefSeq,2014年5月提供]
Related ID:
NCBI:3295
ENSEMBL:ENSG00000133835
HGNC:5213
UNIPROT:P51659
OMIM:601860
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3295
12
24
89836 bp
79.69
972
5
6
26
HSD17B4 Genetics information (+)
GRCh38
Chr : -
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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
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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